22nd Workshop  EURORDIS Round Table of Companies    February 25th, 2015    Brussels, Belgium  Hotel Le Plaza Brussels 

 

“Rare Diseases: Going Global!”

    y Introduction y Concept Paper y Programme y Participants y Presentations & Speakers

22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

Introduction n 

The 22nd d workshop off the EUROR RDIS Round Table of Com mpanies heldd in Brussels on the occasiion of Rare Diseease Day 2015 5, focused on n the theme “R Rare Diseasess: Going Gloobal!” In the currrent climate, the developm ment of innov vative rare dissease therapiees is mostly global in naturre due to the rarrity of patien nts and expeerts, as well as to the fa fact that com mpanies and investors havve an increasing gly internation nal approach to the markett.

Rare diseeases are nott yet recogniised as an in nternational p public health h priority. E EURORDIS w wants to changee this in the next 5 to 10 years, in parrtnership wiith relevant sstakeholderss. In a world w where more coun ntries can pro ovide better access a to heallthcare to at lleast part of ttheir populatiion, and where the Internet iss changing ho ow we access information and build com mmunities, thhe serious situuation that miillions of people living with a rare disease find themselv ves in can be improved beyyond OECD ccountries. national appro oach to researrch and health h policy can make a majoor contributionn to improvinng the An intern lives of people living with w a rare diisease. This can c be done bby increasing access for a bbroader numbber of o information n, an accuratte diagnosis and a quality ccomprehensivve care, as w well as by briinging patients to them new w, innovative therapies. t

The meeting's objectiv ve was to disccuss the oppo ortunities thatt 'going intern rnational' pressents, as welll as to look at po ossible approaaches for a lo ong-term, structured, proogressive inteernationalisaation that invvolves patients, patient orga anisations, researchers, in ndustry and ccompetent au uthorities.

The discu ussion focussed on curreent strategic initiatives that have thhe potential to structuree this internationalisation an nd how they can be synerrgised to opttimise resultss. The follow wing subjects were discussed: •

Awareness, A which w is curreently achieveed through R Rare Diseasee Day, the annnual internaational caampaign aimeed at raising awareness a am mong policy m makers, stakehholders and tthe public, iniitiated in n 2008 and no ow involving over 80 coun ntries from alll continents.

•

Patient P comm munities such h as RareConnect, the gllobal social nnetwork of rrare disease oonline co ommunities available a in 5 languages where w individduals affectedd by rare disseases can coonnect Rare Diseases:Going Global!

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22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

with each other and join conversations on their diseases or topics of common interest, initiated in 2010 and involving 40 countries. •

Research through groups such as the International Rare Diseases Research Consortium (IRDiRC), initiated in 2009-2010 and whose objectives are to have diagnostic tools available for most rare diseases and to help deliver 200 new rare disease therapies, both by 2020. Rare disease researchers have always collaborated internationally to ensure research excellence and the advancement of science, but in a fragmented way. IRDiRC creates a common policy framework, coordinates actions between funding bodies and organises international collaborations in critical areas.

•

Visibility of rare diseases in healthcare systems through ongoing actions including: the incorporation of rare diseases into the revision of the international disease codification system ICD 11; the promotion and broader dissemination of Orpha code; and the indexation of Orpha code with codification systems other than ICD, such as SNOMED.

•

Multi-stakeholder policy conferences including: the European Conference on Rare Diseases & Orphan Products (ECRD) organised by EURORDIS and partners, which attracts a large number of participants beyond Europe; NORD's Rare Diseases and Orphan Products Breakthrough Summit, which takes place in the US; and the International Conference on Rare Diseases & Orphan Drugs (ICORD), which promotes rare disease policy in new regions of the world.

•

Regulatory agencies that are fostering their framework of collaboration mostly between the EU, the US, Canada and Japan. During the meeting the need to strengthen collaboration in order to streamline regulatory requirements in support of global clinical trials was identified as a priority.

•

Pharma and biotech companies that are not yet collaborating on an international level. Meeting participants established that this collaboration is now needed and identified potential precompetitive initiatives that could be put into place to create a more favourable policy environment and partnership. Companies encouraged EURORDIS to take an initiative in this area and were also encouraged to join IRDiRC during the meeting.

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22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

•

Patient organisations, which need to join together in an international network to enhance their capacities and to speak with one global voice, presented the EURORDIS initiative Rare Diseases International, which has been jointly founded with NORD-USA, CORD-Canada, JPA-Japan, CORD-China, IORD-India, ALIBER-Ibero-America and other groups.

Durhane Wong-Rieger, President of the Canadian Organization for Rare Disorders, commented, "EURORDIS has a great track record of working internationally with different cultures and languages, inspiring beyond Europe. We need to make sure that patients around the world feel equally represented and that they have access to a real global community, not just through existing online tools but also through their own local communities. We need to think from the start about how to develop medicines from a global perspective, taking into account all developing countries."

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22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

   

Con ncept Pa per          The EUR RORDIS Ro ound Table of Companiess is dedicatinng its first wo orkshop to in nternational strategies s and inittiatives. Thiss workshop, organised the t day afteer the EURO ORDIS Policy Event “R Rare but Real:Talking Rare Diseases” D annd the EURO ORDIS Blackk Pearl Gala Dinner celeebrating Raree Disease Day, is not about scientific, s reegulatory orr technical aspects, a but rather abou ut strategy, trends t & environm ment changes and public affairs. The objeective is to discuss d (a) tthe current strategic initiiatives to strructure the innternationalisation of rare diseease researcch, informatiion and patiient advocaccy (b) the sppearheading projects to increase awareneess, promote access to innformation and a facilitatee internationnal connectioon of patientts (c) the reality, cchallenges annd ambition of the pharm ma & biotechh companies operating innternationallyy (d) and to increaase synergiess and mutuall support betw ween all stakkeholders. We are living l the his istoric and piioneering tim me of the gloobalisation of o rare diseasses! When loooking at key areas wheere collaboraation betweenn industry annd patient grroups, togetther with other staakeholders, can c make a major contriibution to im mproving thee environmennt by bringinng more, better annd faster innnovative theraapies to patients, internaational policy y and collabo oration comees as one of them.. Academ mic researchers, in rare diiseases as in all life sciennces, have allways collabborated and competed c internatiionally. Thiss is how ressearch, excelllence, advanncement of sciences woork. Howeveer, in the past, theeir action wass not supportted by a com mmon framew work of policcy and tools. Regulatoory agenciess, FDA first and now also EMA, hhave played a key role in i promotingg orphan product regulations or o policies inn different coountries arouund the wordd (e.g. Austraalia, Singaporre, South Korea) aand new cou untries are inn the processs of adoptinng policies incentivising i g the developpment or access too orphan prooducts (e.g. Brazil, B Canad da, Mexico, Turkey). T Botth the FDA and a EMA coollaborate regularlyy on orphan designationns, providingg an experiennce base to foster f guidellines, and pootentially scientific advice andd marketing authorisation n in the futuure. All stakeeholders shouuld look at processes p would stream mline and acccelerate thee developmeent and appproval of orpphan produccts at an which w internatiional level.

 

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  22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

Pharmaceutical and biotech companies engaged in rare disease therapies have long been pioneering actors both in conducting challenging international clinical trials for a few patients scattered around the world, or in introducing their products to national markets corresponding to the patients’ needs. Unfortunately, each company acts in isolation, there is no international pharma & biotech collective voice and few national collective voices, when indeed a lot of collaboration on pre-competitive aspects could take place. Rare disease patients groups are broadly connected to other patients groups for the same disease (s) elsewhere in the world. Only a few rare disease patient advocates are in regular contact with each other. The vast majority is connected only to their national community with a degree of European networking, therefore little international collaboration takes place. The fact that rare diseases are a challenge to people everywhere in the world has been recognised and mentioned by all rare disease umbrella patient organisations being created over the years but actions have been postponed in order to focus on the national level. Rare diseases are not yet recognised as an international public health issue, and surely not as a national public health issue in the vast majority of countries. It does not exist yet in the UN System, at WHO or elsewhere. Times are changing. Structuring strategies help rare diseases to emerge! Patients are getting together within Rare Diseases International to connect the rare disease advocacy movement around the world, speak with one strong, legitimate and credible voice at global level, support the expansion of the movement in all regions, and partner with stakeholders at international level. This is the beginning of a long march, a challenging but necessary one. EURORDIS is already very much engaged and experienced in international activities, from its coverage of 48 countries across the European continent, to its communication in English, French, German, Italian, Portuguese, Spanish and Russian and its partnerships with major patient groups around the world. It takes an important new initiative such as Rare Diseases International to create a new common good with its own governance engaging as equal partners the rare disease organisations from Europe, the USA, Canada, Japan, Russia, Latin America, Australia, China, India, and possibly also Israel, New Zealand, South Africa

and Taiwan. We need to act at local, regional and

international level. Acting at international level across countries and across rare diseases will make each member stronger locally, or for their own disease.

 

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  22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

Whereas Rare Disease International is the global organisation for rare diseases, connecting patient groups, Rare Connect is the platform to enable individual patients, families and professionals to connect with online global communities for their disease, or around a specific topic. At the core of both initiatives, and at its interface, rare disease patient advocates will increasingly connect and work together globally on a regular base. A Working Group of the EURORDIS’ Council of National Alliances organises the public and policy maker awareness annual campaign Rare Disease Day. These three initiatives are autonomous to enhance their performance, strategically consistent, already reinforcing each other and will continue to grow. The International Consortium for Research on Rare Diseases (IRDiRC) initiated in 2010 is half way towards its 2020 objectives, and already sure to reach the targets of 200 new rare disease therapies and diagnostic means for most rare diseases. The coordination of public-funding bodies and private actors based on common policy and strategic actions is essential to make the most of limited resources and scarce knowledge. The consortium generates specific recommendations to funders, promotes priority innovative research and catalyses coordinated actions, identifies platform or tools to be recommended, brings regulators into the research agenda. The consortium is an accelerator of research collaboration and of dialogue between all stakeholders at international level. It is also a flagship to hold on to. The international classification of rare diseases is another structuring strategy for rare diseases. Being classified and the classification being used, rare disease people become visible in the healthcare systems, more research is feasible, a common language facilitates collaborations. Here too, it is a complex and long-term adventure, but already quite well-advanced with OrphaCode and in ICD 11 and SNOMED. It is a strong vector, a game changer. Besides its work related to the nomenclature and classification of rare diseases, over the years, Orphanet has developed and enriched its database of information on relevant resources. Since its creation, the Orphanet website has always been widely consulted beyond the national boundaries of EU Member States. Now, the Orphanet Consortium is expanding towards new languages and new territories. Conferences have an important function in promoting the cause of rare diseases, the current and most innovative messages, the networking between all stakeholders to share a common vision, language and culture. The European Conference on Rare Diseases & Orphan Products is in itself an international event bringing together 500 participants from all over Europe, but also 100 participants from around the world. The US Conference NORD Rare Diseases and Orphan Drug Breakthrough

 

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  22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

Summit also involves some international speakers. The World Orphan Drug Congress organised in the USA, Europe and now Singapore reinforces awareness and networking primarily among the industry. The International Conference on Orphan Drugs & Rare Diseases (ICORD) puts the spotlight in different parts of the world such as Japan, Latin America / Argentina and Central America / Mexico. Towards a concerted strategic approach? Why go global now? What are the drivers, opportunities and challenges? Where could these initiatives take us by 2020? How is industry embracing and leading the globalisation? What are the risks and opportunities for a company? What is needed for a better environment for rare disease therapy development? What could the game changers of tomorrow be? These are some of the questions that will be discussed at the workshop.

 

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    22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels       Agenda    

    Morning session co-cchaired by: Prof. Kerrstin Westerrmak – COM MP,EMA; Medical M Pro oducts Agenccy Sweden and Mr. M Terkel Andersen A – President, P EURORDIS Board B of Diirectors 9:30 9 – 9:45

Welcome ad ddress: Yannn Le Cam (C Chief Executiive Officer, EURORDIS E S)

9:45 9 – 12:45

Internationaal Strategiess for Rare Diiseases

9:45 9 – 10:15

Rare Diseasse Internatioonal Durhane Woong-Rieger, PhD., P Presiddent of the Caanadian Orgaanization forr Rare Disorders (C CORD) The new nettwork of umbbrella patiennt advocacy & support groups g arounnd the world to expand the rare r disease movement and the globaal voice of rare disease paatients

10:15 – 10:455

Internation nal Rare Diseases Research Consorttium (IRDiR RC) Paul Lasko, PhD., Chairr of IRDiRC – presented by b Yann Le Cam, EURO ORDIS The consortiium of publicc funding bodies, regulattory agenciess, industry annd patient advocacy grroups, to team m up researcchers and orgganisations investing i in rare r disease research in order to achieve the mainn objectives by year 20200 to deliver 200 2 new therapies forr rare diseasses and meanns to diagnosse most rare diseases.

10:45 – 11:155

Coffee breakk

11:15 – 11:455

Internation nal Classificaation of Rarre Diseases Annie Olry, PhD., Scien ntific Lead , Orphanet O - Innserm US14 The developpment, adopttion and use of international classifiication (s) off rare diseasses over the lasst years annd will continnue to be ann active file in has grown significantly s coming yearrs: State-of-pplay of the Orpha code, ICD11, I SNOM MED CT

11:45 – 12:455

Panel discu ussion with all a morning speakers an nd chairperssons: Why go globbal? What arre the challennges? Wheree could we bee in 2020?

12:45 – 13:455

LUNCH

Afternoonn session co-chaired by: Dr. Marlen ne E. Haffner - CEO Haffner Associates, LLC aand Ms Clau udia Hirawaat - Chair, EURORDIS International Circle of Ambassadoors 13:45 – 14:455

Global R & D and locall Regulationss & Marketss Panel discu ussion with CEOs C or leaders of pharrmaceuticall companies,, as well as regulators: ‐ ‐ ‐

How w is industry y embracingg and leadin ng in the glob balisation? What are the riisks and opp portunities? ? What is needed d for a betterr environmeent for rare disease therrapy development?

Kristina Larrsson, Head of o Orphan Medicines, M EM MA Susanne Schhaffert, Head d Region Eurrope, Novartiis Oncology Emmanuel Chantelot, C Head Intl Govvernment Rellations & Pub blic Affairs, Shire Paul Ledgerr, Director Raare Disease Unit, U GlaxoS SmithKline Owen Markks, Senior Dirrector and Teeam Leader for f Pfizer Haaemophilia Rare Diseases:Going Global!

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    22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels         14:45 – 16:30

International Initiatives to Raise Awareness

14:45 – 15:05

Rare Disease Day Avril Daly, Vice President, Board of Directors, EURORDIS The patient advocacy group annual campaign to raise public awareness, to engage policy makers and create a sense of global cross-over rare diseases multistakeholder community

15:05 – 15:25

RareConnect Denis Costello, RareConnect Leader, EURORDIS The platform connecting rare disease patients globally and promoting multilingual conversations between them. Over 500 patient advocacy groups and over 200 volunteers are already forming 70 global rare disease communities. RareConnect’s ambition for the years to come.

15:25 – 15:45

Orphanet beyond Europe Charlotte Gueydan, PhD., Quality Manager, Orphanet - Inserm US14 The Orphanet website has long been consulted all around the world but now Orphanet is expanding in major countries beyond Europe, syndicating its services, to collect local information on resources (research programmes, centres of care, experts, medicines available) and to provide its services in more languages

15:45 – 16:05

International Conference on Rare Diseases and Orphan Drugs (ICORD) John Forman, President of ICORD – presented by Dr. Marlene E. Haffner, CEO Haffner Associates, LLC A vehicle to catalyse stakeholders and raise policy awareness in countries opening to rare diseases such as Argentina, Mexico, Japan.

16:05 – 16:30

Q & A - Conclusions

16:30

Meeting ends

 

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      Partticipants s      First naame

Su urname

Organisation

Bimpe Patrizia Terkel Astrid Eva Stuart Lena Mary Anne-M Jill Mathieuu Federicaa Ken Emmanuuel Françoiss Denis Tom Grainne Avril Paolo Françoisse Anouk Francescca Annamaarie Jill Catarinaa Lidia Roselinee Henrik Veronica M-Chrisstine Juan Sebastieen Maciej Benjamiin Ruedigeer Erwan Ruben Marco Charlottte Laura Marlenee E.

Ad dejuyigbe Alllegra An ndersen Baaumann Beearryman Beell Beera Boodin Boonjean Booudes Caastiglione Chhan Chhantelot Coornu Coostello Crroce Crrowley Daaly Dee Angeli Dee Craecker Dee Vroey Dii Cretico Diillon Do olgin Ed dfjäll Faabiani Faavresse Finnnern Fooote Foortun Fuuertes Gaagnon-Messiier Gaajewski Gaannon Gaatermann Giicquel Giiorgino Grrebe Gu ueydan Gu utierrez Haaffner

Sigmaa-Tau Pharm ma Ltd. Cytokkinetics, Inc. EURO ORDIS Boarrd - Danish Haemophilia H Society BioM Marin EURO ORDIS Idis CSL Behring B EURO ORDIS EURO ORDIS EURO ORDIS Novarrtis Farma S.p.A. Vertex Pharmaceuuticals Shire Insmeed Incorporatted EURO ORDIS Shire Alexion ORDIS Boarrd - Fighting Blindness EURO Chiessi Farmaceutiici S.p.A. Rapto or Pharmaceuuticals Europpe B.V Bristool-Myers Squuibb Pfizerr Europe Genzyyme Insmeed Incorporatted CSL Behring B AG Novarrtis Farma S.p.A. Rare Diseases D Fouundation Boehrringer Ingelhheim GmbH Novarrtis Farma S.p.A. Orphaan Europe PHA Europe Bayerr Pharma AG G Shire Vertex Pharmaceuuticals CSL Behring B Biogeen Idec Helsinnn Healthcarre SA Grifolls Deutschlannd GmbH Orphaanet - Inserm m US14 Celgeene Haffnner Associatees, Inc. Rare Diseases:Going Global!

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  22nd Workshop of the Eurordis Round Table of  Companies - February 25th, 2015 - Brussels   Adrian Haigh PTC Therapeutics Adam Heathfield Pfizer Karin Hellsvik Biogen Idec Claudia Hirawat EURORDIS Virginie Hivert EURORDIS Stuart Hurst Synageva Ana Irigaray Pharma Mar, S.A. Pascal King Retrophin Inc. Anna Kole EURORDIS Ryszard Kole Sarepta Therapeutics, Inc. Mark Krueger Mark Krueger & Associates,Inc. Kristina Larsson European Medicines Agency – Orphan Drugs Yann Le Cam EURORDIS Lugdivine Le Dez Celgene Nadege Le Roux Celgene International Emmanuelle Lecomte-Brisset Shire Paul Ledger GSK Rare Diseases Kevin Loth Celgene International Olivia Louis LFB Biomédicaments Flaminia Macchia EURORDIS Owen Marks Pfizer Ltd. Thomas Meier Santhera Pharmaceuticals Holding Ltd. Thomas Morel UCB Hélène Mouty Actelion Pharmaceuticals Wendy Niebler PTC Therapeutics Annie Olry Orphanet - Inserm US14 May Orfali Pfizer Ana Palma Sobi Deborah Pierce Baxter World Trade sprl Vinciane Pirard Genzyme George Reynolds OpenApp Michele Rhee Bluebird Bio Maria RodriguezSanchez Baxter World Trade sprl Kyra Rosow Pfizer Fernando Royo Genzyme Alma Rubio Actelion Pharmaceuticals Katrin Rupalla Bristol-Myers Squibb Susanne Schaffert Novartis Farma S.p.A. Josep Torrent-Farnell COMP, EMA Stephan Toutain Sarepta Therapeutics, Inc. Geske Wehr EURORDIS Board - European Network of Ichthyosis Hartmann Wellhoefer Shire Richard West Behçet’s Syndrome Society Kerstin Westermark COMP, EMA - MPA Sweden Micheline Wille Raptor Pharmaceuticals Europe B.V Jennifer Wilson NPS Pharma Durhane Wong-Rieger Canadian Organization for Rare Disorders (CORD)   Rare Diseases:Going Global!

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Presentations & Speakers   

• Ms. Durhane Wong-Rieger, CORD, Canada • Dr. Paul Lasko, IRDiRC, Canada (presented by Yann Le Cam, EURORDIS) • Ms. Annie Olry, Orphanet - Inserm US14, France • Ms. Avril Daly, EURORDIS Board & Fighting Blindness, Ireland • Mr. Denis Costello, EURORDIS, Spain • Ms. Charlotte Gueydan, Orphanet – Inserm US14, France • Mr. John Forman, ICORD & NZORD, New-Zealand (presented by Dr. M. Haffner)

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Durhane WONG-RIEGER, PhD. is Immediate Past-Chair of the International Alliance of Patient Organizations, Co-Chair of the Health Technology Assessment International Patient /Citizen Involvement Interest Group and Board Member representing patient interests at DIA International Association. In Canada, she is President of the Institute for Optimizing Health Outcomes (providing training and direct service on health coaching and patient self-management), President of the Canadian Organization for Rare Disorders (CORD, the umbrella organization of patients and patient groups) and chair of the Consumer Advocare Network, a national network for patient engagement in healthcare policy and advocacy. She is a certified Health Coach and licensed T-Trainer with the Stanford-based Living A Healthy Life with Chronic Conditions. Dr. Wong-Rieger has served on numerous health policy advisory committees and panels and is a member of the Advisory Board for the Canadian Institutes of Health Research Institute of Genetics and the Patient Liaison Forum for the Canadian Drugs and Technologies in Health. Durhane has a PhD in psychology from McGill University and was professor at the University of Windsor, Canada. She is a trainer and frequent lecturer and author of three books and many articles.

Contact information: Durhane Wong-Rieger President Canadian Organization for Rare Disorders 151 Bloor Street West, Suite 600 Toronto, Ontario M5S 1S4, Canada Email: [email protected]

 

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Rare Diseases International ERTC Brussels February 24, 2015 Durhane Wong-Rieger, President & CEO Canadian Organization for Rare Disorders Founder of Asia Pacific Alliance of Rare Disease Organisations Member of RDI Preformation Group

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Vision Rare Diseases International (RDI) will bring together national and regional rare disease patient organisations from around the world as well as international rare disease-specific federations, to create a global network of rare disease patients and families As a result of RDI, people living with a rare disease worldwide and their families will experience increased public health services and support.

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Mission Statement

To be a strong common voice on behalf of people living with rare diseases around the world 11/03/2015

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RDI: General Objectives • To promote rare diseases as an international public health and research priority through public awareness and policy-making • To represent members and people living with rare diseases at large, in international institutions and forums • To enhance the capacities of members through information, exchange, networking, mutual support and potentially joint actions

• To be the voice of people living with rare diseases internationally

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Why is RDI needed? • To unite, expand and reinforce the RD movement of patient organisations and patient advocates • To enable the rare disease patient groups to act at local, national, regional, global levels and to interact with other RD areas • To enable the emergence of RD as a public health & research priority internationally • Most international initiatives are ad hoc and linked to a particular diseases. RDI is an opportunity to work globally and to create a global RD community through advocacy and exchange of experience. • To influence the debate in international organisations (UN, WHO, OECD)

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Background • In March 2012, the EURORDIS Board of Directors adopted the orientation to create an informal network to expand the movement of rare diseases internationally, provide mutual support between patient organisations and be able to speak with one voice. • RDI was also a clear expectation at ICORD Tokyo 2012, where participants shared a strong sense that it was time to take action at the international level. • Survey carried out in Sept 2013 to evaluate level of interest 11/03/2015

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Survey • Survey designed in consultation with international partners, CORD and IAPO, developed to determine the level of interest of rare disease patient organisations in international affairs. • 64 respondents from 37 countries around the world were overwhelmingly in favour of the creation of a Rare Diseases International initiative with 98% replying that they would be interested in joining.

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64 respondents from 37 countries around the world

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RDI: a EURORDIS Initiative • RDI is a EURORDIS initiative, in partnership with National Alliances and patient groups around the world with whom EURORDIS has signed partnership agreements (Memorandums of Understanding) that include the establishment of RDI. • RDI has is fully backed by EURORDIS Council of National Alliances (29 National Alliances in Europe) • RDI has already gathered strong support of strategic patient organisations in the US, Canada, Japan, China, India, Australia, New Zealand and Latin America. Other umbrella organisations representing RD patients in Malaysia, Hong Kong, Taiwan, Singapore and South Africa are well aware of this initiative. 11/03/2015

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Why is EURORDIS taking the lead? • As a Pan-European Alliance, EURORDIS has over 15 years experience in working with 48 countries in Europe with different cultures, health systems and languages • EURORDIS has a track record of working with POs networks (CNA, CEF) & stimulating common goals • Multicultural & multilingual, used to working in the 7 official EURORDIS languages • Provide start-up funding & human resources 11/03/2015

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Membership: Who can apply? • National Alliances for Rare Diseases worldwide • International disease-specific Diseases worldwide

Federations

for

Rare

• Pan-regional networks for Rare Diseases worldwide Pan-regional networks can gather national Rare Disease Alliances organisations from a given region, for ex: IberoAmerican Alliance (ALIBER), Asia-Pacific Alliance (APARD) or Nordic Alliance. As a general rule RDI will not accept membership applications from local patient groups. However, very different organisation structures may exist worldwide and it is up to the Council of RDI to decide upon membership on a case-by-case basis.

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Governance During the “pre launch” period, a “pre formation group” is steering the process and approving founding documents The PFG is composed of: • 1 EURORDIS representative • 1 NORD representative • 1 CORD representative • 1 JPA representative • 2 National Alliance from emerging countries (China and India) • 1 experienced International Federation (DEBRA International) • 1 Regional Alliance (Iberoamerican RD Alliance) 11/03/2015

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Governance • After the official launch of RDI at the EURORDIS Membership Meeting in Madrid in May 2015, full members to present an expression of interest for the purpose of composing a new Steering Committee (Council of RDI) • The Council will be elected by full members only However, members will rotate and efforts will be made to encourage the participation of emerging and developing countries. 11/03/2015

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Planned Actions Advocacy • Development and adoption of a Joint Declaration “Rare Diseases: an International Public Health Challenge” • Potential drafting of position papers at the initiative of any member organisation • Introduce Rare Diseases International to UN’s ECOSOC, WHO, OECD • Partnership and coordinated liaison with the International Association of Patient Organisations (IAPO) for conferences, policy and WHO liaison • Potential surveys to members

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Action Plan Information • Creation of a Rare Diseases International website with basic information about the initiative and a listing of all member associations including their logo, website and contact person/details (only English for now) – The domain name rarediseasesinternational.org is currently owned by EURORDIS and the website is under development • Production of a brochure on Rare Diseases International, to also be available for download and printing online • Distinctive visual identity Awareness • Promotion of Rare Disease awareness worldwide through active participation in and the promotion and expansion of Rare Disease Day 11/03/2015

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22nd Workshop of the Eurordis Round Table of Companies - February 25th, 2015 - Brussels

Action Plan Networking • Initial creation of a Rare Diseases International mailing list to include all contacts in member organisations for an efficient exchange of information – This will eventually be moved to RareConnect to be hosted as a Discussion group

• Organisation of regular Rare Diseases International Meetings, back to back with existing conferences such as the IRDiRC conference or ICORD • Encourage and facilitate regional networking e.g. IberoAmerican Alliance; potential Asian-Pacific Alliance; potential African Alliance • Possible development of a Short-Term Exchange & Internship Capacity Building Programme between member organisations

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Action Plan Research • Coordination between Rare Diseases International member organisations with respect to participation in the International Rare Diseases Research Consortium (IRDiRC) in order to broaden patient representation worldwide Partnerships

• Orphanet • International Alliance of Patients' Organizations (IAPO) • International Conference on Rare Diseases & Orphan Drugs (ICORD), • Introduce RDI to the International Federation of Pharmaceutical Manufacturers & Associations (IFPMA) and the International Federation of Human Genetics Societies (IFHGS) 11/03/2015 eurordis.org •

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RDI: Benefits for ex-Europe POs & NAs • POs currently benefit as EURORDIS members drawing upon policies (Clinical trials for small patient populations), programs (Summer School), and resources (RareConnect) • RDI presents opportunity for POs to leverage international voice to raise awareness, support, and action in local countries • RDI provides opportunity for NAs and networks to collaborate on regional issues and insure RDs included in health and economic polices, e.g., UHC • RDI can highlight RD challenges endemic to LMIC’s and encourage international attention to address 11/03/2015

eurordis.org

19

RDI: Global Inspiration for All • RDI is patient-centric, patient-driven, patient-led • RDI recognizes patients with Rare Diseases are all linked and most are genetically related • RDI provides international platform for rare diseases along with more common ones • RDI can serve as a portal for RD patients and families, regardless of where they live, to a global community with resources and support • RDI provides opportunity for RD patients in countries and regions where RD not yet meaningfully recognized to feel empowered and connected 11/03/2015

eurordis.org

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Yann LE CAM is a patient advocate who has dedicated 25 years of professional and personal commitment to health and medical research nongovernmental organisations in France, Europe and the United States in the fields of cancer, HIV/AIDS and rare diseases. He has three daughters, the eldest of whom has cystic fibrosis. Yann is one of the founders of EURORDIS in 1996-1997 and its Chief Executive Officer since 2001. He has participated in the revision and adoption of European regulations having an impact on rare disease patients’ life, including the EU Regulation on Orphan Drugs, December 1999. He was one of the first patient representatives appointed to the Committee for Orphan Medicinal Products (COMP) at the European Drug Agency (EMA) where he served for 9 years and was its Vice Chairman for 6 years. He served on the Management Board and Executive Committee of the French HTA agency for 5 years, on the DIA Advisory Committee Europe for 3 years. He was the Vice Chairman of the EU Committee of Experts on Rare Diseases (EUCERD) from 2011 to July 2013, and he is nominated on the current Commission Experts Group on Rare Diseases In November 2013, Yann Le Cam was elected Chair of the Therapies Scientific Committee of the IRDIRC – International Rare Diseases Research Consortium.

Contact information: Yann Le Cam Chief Executive Officer EURORDIS Paris office Plateforme Maladies Rares 96 rue Didot 75014 Paris, France Email: [email protected]

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International Rare Disease  Research Consortium (IRDiRC)  Paul Lasko, PhD, Chair of IRDiRC – Presented by  Yann Le Cam, EURORDIS, Chair of IRDiRC Therapies Scientific Committee

Cooperation at international level to stimulate,  better coordinate and maximize output  of rare disease research efforts  around the world

ERTC – 22nd Workshop – 25th February 2015 ‐ Brussels 1

IRDiRC – basic principles X

Cooperation at international level  to stimulate, better coordinate &  maximize output of rare disease  research efforts around the world

X

X

X X

Teams up public and private  organizations investing in rare  diseases research Research funders with relevant  programs >$10 million US over  a 5‐year period can join & work  together Each organization funds  research its own way  Funded projects adhere to a  common framework

2

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Goals of IRDiRC by 2020 200 new therapies  for rare diseases 

Means to diagnose  most rare diseases 3

Executive Committee: FUNDING AGENCIES Paul Lasko (chair of IRDiRC)

Stephen Katz

•Canadian Institutes for Health Research •Canada

•National Institute of Arthritis and Musculoskeletal and Skin Diseases  (NIH) •USA

Christopher Austin

Nicolas Lévy

•National Center for Advancing Translational Sciences (NIH) •USA

•French Foundation for Rare Diseases •France

Pedro Cortegoso Fernández

Pamela McInnes

•National Institute of Health Carlos III •Spain

•Office of Rare Diseases (NIH) •USA

Hugh Dawkins (Vice Chair if IRDiRC)

Pierre Meulien

•Western Australian Department of Health •Australia

•Genome Canada •Canada

Ruxandra Draghia‐Akli (immadiate past Chair)

Lucia Monaco

•European Commission •Europe

•Telethon Foundation •Italy

Enrico Garaci

Katherine Needleman

•Istituto Superiore de Sanita •Italy

•Office of Orphan Products Development (FDA) •USA

4

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Executive Committee: FUNDING AGENCIES Marie‐Christine Ouillade

Bertrand Schwartz

•French Muscular Dystrophy Association •France

•Agence Nationale de la Recherche •France

Willem Ouwehand

Danilo Tagle

•National Institute for Health Research •UK

•National Institute of Neurological Disorders and Stroke (NIH) •USA

Melissa Parisi

Edward Trimble

•National Institute of Child Health and Human Development (NIH) •USA

•National Cancer Institute (NIH) •USA

Hyun‐Young Park

Santa Tumminia

•Korea National Institute of Health •South Korea

•National Eye Institute (NIH) •USA

Jeffery Schloss

Sonja van Weely

•National Human Genome Research Institute (NIH) •USA

•The Netherlands Organisation for Health Research and Development •Netherlands

Ralph Schuster

Heikki Vilen

•Federal Ministry of Education and Research •Germany

•Academy of Finland •Finland

5

Executive Committee INDUSTRY

Robert Mashal •NKT Therapeutics •USA

Karen Aiach

Brett Monia

•Lysogene •France

•Isis Pharmaceuticals •USA

Andrea Chiesi

Albert Seymour

•Chiesi Farmaceutici S.p.A. •Italy

•Shire •USA

Luc Dochez •Prosensa •Netherlands

Diane Goetz •PTC Therapeutics •USA

RESEARCH & DEVELOPMENT  SERVICE

Carlo Incerti

Mao Mao

•Genzyme •USA

•WuXi AppTec Co., Ltd. •China

6

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Executive Committee RESEARCH ORGANIZATIONS

HOSPITALS

Denis Lacombe

Oleg Kvlividze

•European Organisation for Treatment & Research on Cancer (EORTC) •Belgium

•Children’s New Hospitals Management Group •Georgia

Ning Li

RARE DISEASE PROJECT

•Beijing Genomics Institute (BGI) •China

David Pearce

Sultan Turki AlSedairy

•Sanford Research •USA

•Saudi Human Genome Project •Kingdom of Saudi Arabia

CONSORTIUM OF RESEARCH  INSTITUTES

CONSORTIUM OF FUNDING  BODIES

Qing K Wang

Daria Julkowska

•Chinese Rare Disease Consortium •China

•E‐RARE 2 Consortium •Europe

7

Executive Committee

PATIENT ORGANIZATIONS Béatrice de Montleau • European Organisation for Rare Diseases (EURORDIS) • Europe

Peter Saltonstall • National Organization for Rare Disorders (NORD) • USA

Sharon Terry • Genetic Alliance • USA

8

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IRDiRC Scientific Secretariat X

In place at Inserm US14, at the Rare Disease Platform, Paris, France

X

FP7 contract for 6 years since October 2012: « Support  IRDiRC », until October 2018

X

Management of the network / assistance  ªto Executive Committee, Scientific Committees and  Working Groups

X

Management of the website: http://www.irdirc.org/ 9

Governance structure

Recommendations issued + Roadmap

10

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Governance structure

Working groups reshuffled into Task forces while entering now in  implementation phase

11

Achievements so far

12

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ENLARGE THE CONSORTIUM

13

Expansion of the consortium on four  continents

14

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ORGANIZE INTERNATIONAL  CONFERENCES 15

IRDiRC Conferences X

First IRDiRC Conference  ªin Dublin, Ireland ªApril 16‐17, 2013 ªOrganized by the European  Commission

X

Second IRDiRC Conference  ªin Shenzhen, China ªNovember 7‐9, 2014 ªOrganized by Beijing Genomics  Institute (BGI) 16

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ADOPT AND DISSEMINATE IRDIRC POLICY AND GUIDELINES 17

Principles applying to Research activities Sharing and collaborative work in RD research X X X X

Sharing of data and resources Rapid release of data Interoperability and harmonization of data Data in open access databases

Scientific standards, requirements and regulations in RD  research X X X

Projects should adhere to IRDiRC standards Develop ontologies and biomarkers Cite use of databases and biobanks in publications 18

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Principles applying to Research activities Participation by patients and / or their representatives in  research X X X X

X

Act in the best interest of patients Involve patients in all aspects of research Involve patients in governance of registries Involve patients in the design, conduct and analysis of clinical  trials Acknowledge patients contribution in articles

19

Principles applying to Funding Bodies X X X X

X X

Promote the discovery of genes Promote the development of therapies Fund pre‐clinical studies for proof of concept Promote harmonization, interoperability, sharing, open access  data Promote coordination between human and animal models Promote active exchanges between stakeholders through  information dissemination of ongoing projects and events

20

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ADOPT AND IMPLEMENT A  ROADMAP 21

Intense consultation of stakeholders X

18 months of discussion  ª Organized in 12 Working Groups  ª Reporting to 3 Scientific Committees ª Reporting to the Executive Committee ª All reports are accessible on www.irdirc.org

X

Definition of an action plan ª Action plan for the implementation of the principles defined in the  policy document ª Action plan to speed up R&D in the field of rare diseases and orphan  drugs

22

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Diagnostics Scientific Committee (DSC) Roadmap DIAGNOSE MOST RARE DISEASES BY 2020 2014 IRDiRC  Standard Ontology

WG on Sequencing

IRDiRC  Standard

WG on Control  Population Variant  dataset

WG on Model  Systems Editorials Standards

2300  Standard  Terms

Model  Organism  Ontologies Clinical Translation Tools

Variant  Dataset – 10‐20 pop List of genotype &  phenotype DB for  data deposition  and sharing

Matchmaker

WG Genome/ Phenome Global Alliance

WG on Ontologies  and RD  prioritization

WG on  Genome/Phenome

2016

2015

Matchmaker Pro

Summary of functional assay  resources How many disease genes  remain  to be Identified

Solving the unsolvable

Interpretation of rare variants in  clinical care 23

Tools

Interdisciplinary Scientific Committee (ISC) Roadmap

24

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Therapies Scientific Committee (TSC) Roadmap

25

2014 ACTION PLAN: ADOPT AND PROMOTE  STANDARDS FOR INTEROPERABILITY / DATA  SHARING 26

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Adoption of a core set of >2,300 terms  common to all terminologies Workshop on Terminologies for RD – Paris, 12 September 2012 X

X X X

X

Many terminologies in use to                  describe phenomes ‐ No interoperability  Joint EuroGenTest and EUCERD workshop Organized by Ségolène Aymé Agreement to define a core set of terms  common to all terminologies and a  methodology Core set identified by cross referencing ª ª ª ª ª ª

HPO PhenoDB Orphanet UMLS: MeSH, MedDRA, SnoMed CT LDDB Elements of morphology

Workshop of validation, Boston 21‐22 October 2013 X

X X X X

X

X

Workshop supported by HVP and  EuroGenTest Organized by Ada Hamosh Expert review of the initial proposal Selection of 2,370 terms  Decision to propose them for adoption by all  terminologies Establishment of the International  Consortium for Human Phenotype  Terminologies – ICHPT Publication on the IRDiRC website with  definitions from  ª HPO ª Elements of morphology

27

Standardization of Phenotype Ontologies Workshop Sympathy, 19 Apr 2013, Dublin  Organized by IRDiRC, supported by the University of Dublin, Forge and EuroGenTest Conclusion: Adopt HPO & ORDO & cross‐reference with OMIM

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Adoption of a core set of >2,300 terms  common to all terminologies

X

X X X

X

PhenoTips and  PhenomeCentral Repository of data Hub for data sharing CareforRare,  RDConnect NIH undiagnosed  patients

X X

X

ClinVar and ICCG Public archive of  variants and assertions  about significance

X

X

Decipher Database of  Chromosome  imbalances and  phenotypes Using Ensembl resources Sanger Institute

NCBI resource

X

X

Wellcome Trust

29

2015 ACTION PLAN:  IMPLEMENTATION PHASE WITH TASK FORCES ON OUTSTANDING ISSUES 30

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NEW GOVERNANCE STRUCTURE

31

Objectives of Task Forces Task Forces will be constituted according to the following objectives:  X Topics specific to rare diseases  X High leverage projects with strong translational potential and international  scope  X Actions for international scope and relevance  X Projects that have not been covered by international initiatives  X Well targeted action, with potential to produce results before 2020 X Actionable projects with secured human and financial resources X Clear objectives and timelines to improve participation and member  motivation X Coordination with other organisations to identify gaps and needs X Alignment and harmonisation of projects with other international  initiatives 32

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Mandate of Task Forces  X X

X X X X

Organise topic‐specific workshops  Review and validate concept papers for the  workshops  Review and validate the final workshop programmes Contribute to the workshops Produce and disseminate workshop reports Push forward implementation of workshop outcomes 

33

Priority topics to implement in 2015 (1) X

Computable consent forms: Set up a workshop to establish elements to computerize based on standards and create clear records of what patients agree upon and which samples are usable in the future.

X

Data Standards Clearinghouse: Work with data banks and medical centers that do not conduct research to extract information and electronic medical records in RDs.

X

Matchmaker Exchange: A primary workshop took place in Miami on 20‐21 January, involving participants from Phenome Central, Gene Matcher, GEM.app and DECIPHER, aiming at finalizing the API to connect matchmakers via Matchmaker Exchange (http://matchmakerexchange.org/). 34

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Priority topics to implement in 2015 (2) X

Small population clinical trials: Set up a workshop on adaptive  design, statistical methods, acceptability of new methods. Coordinate with  FDA, EMA, industry, IDEAL, INSPIRE, ASTERIX and other US initiatives. 

X

Patient relevant outcomes & patient reported outcome: Set  up a workshop to make use of case studies, coordinate PCORI, ISPOR,  COMET, MAPI, ICHOM, FDA, EMA, IMI and industry, and advance the HTA  process. Distinguish between relevant (guidelines and objectives prior to  clinical trials) and reported (outcomes reported)

X

Repurposing (2016)

35

Workshops in 2015

36

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All documents are accesssible at  www.irdirc.org 

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Annie OLRY has a PhD in molecular biology. Since 2007, when she joined Orphanet (www.orpha.net), she has worked in the field of medical information. At Orphanet, she has overseen the disease inventory and classification system and since 2014 she coordinates the collection and validation of the scientific data constituting the rare disease database of Orphanet. She is scientific lead for most of Orphanet's projects and collaborations, notably the Orphanet Rare Diseases Ontology (ORDO).

Contact information: Annie Olry Disease database Orphanet- Inserm US14 Plateforme Maladies Rares 96 rue Didot 75014 Paris, France Email: [email protected]

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Rare diseases codification in health information systems: current situation and evolutions forseen Annie Olry, Bertrand Bellet, Ségolène Aymé, Ana Rath ORPHANET - Inserm US14, Paris, France [email protected] EURORDIS Round Table of Companies Brussels 25 February 2015

Improved codification for rare diseases is cited as a priority in the Council Recommendation on  an action in the field of rare diseases (2009)

www.orpha.net

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Need for coding RD • Make RD visible in order to: – Have sound epidemiological data – Document the natural history of RD – Identify patients from health records for clinical research – Bring clinical data to research

• Need to have a common language to allow for  – inter‐operability between health information systems that are using different terminologies  – sharing clinical data between health care centres and databases and registries: • Patients are rare and scattered • Significant amounts of data are necessary to perform research

www.orpha.net

Steps so far • 2009‐2012 RDTF Joint Action: support ICD11 revision process for RD & cross‐ referencing terminologies 

• 2012 on: EUCERD Joint Action: continuation of the RDTF work – Sept 2012: EUCERD JA workshop on cross‐referencing terminologies – March 2014: EUCERD JA workshop on Orphacodes in HIS

• October 2014 (JRC‐ISPRA): Workshop to exchange experiences and approaches to  coding rare diseases

• November 2014: CEGRD Adopted recommendation for codification of RD (adoption  of ORPHA code by MS)

www.orpha.net

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The current situation: EU MS  

Current coding systems  used ICD 10 ICD 9  ICD ICD10 ICD10 CY

Country Austria  Belgium  Bulgaria  Croatia  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Greece  Hungary  Ireland 

Plans to  Interest in/plans  implement  Approach  to use Orphacode other system favoured yes Electronic link yes Snomed, ICD 10 Parallel coding yes Parallel coding yes Parallel coding

ICD10 DM, Nordic codes,  OMIM

no

ICD10, Orphacode ICD 10 GM ICD10 ICD10 ICD10

yes yes yes (registry) yes yes

Parallel coding Electronic link Parallel coding

EGRD, July 2014 www.orpha.net

The current situation: EU MS  Country Italy Latvia  Lithuania  Luxembourg  Malta  Netherlands  Poland  Portugal  Romania Slovakia  Slovenia  Spain  Sweden  United Kingdom 

yes yes (registries) yes (CE) yes

ICD10 ICD10

yes (CE) yes (CE)

Parallel coding

yes (registries)

Parallel coding

ICD10, some use of  Orphacodes (CE) ICD10, OMIM ICD10, OMIM, Orphacode  (CE) ICD9 ICD10 ICD10 ICD10, Snomed

Interest in/plans  to use Orphacode

Plans to  implement  other system

Current coding systems  used ICD9 CM (hospital) ICD10  (statistics) ICF,  Orphacodes ICD10 ICD10 ICD 10

yes no no 

OMIM

Approach  favoured

Electronic link Parallel coding Parallel coding

Snomed, ICD 10 Snomed, ICD 10

d

EGRD, July 2014 www.orpha.net

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The current situation: terminologies • Most health information systems use ICD – Some ICD‐9 – Most ICD‐10

• WHO’ ICD‐11 revision is expected for 2017 • One country has adopted SNOMED CT • Genetic databases use OMIM • In Europe, countries having national plans/strategies for RD decided to integrate the Orphanet nomenclature of RD, and code patients  with the ORPHA code

www.orpha.net

Terminologies currently used ● ICD‐10 (International classification of diseases‐ WHO); 12,451 terms • Monohierarchical classification of diseases • Intended for statistical uses (morbidity, mortality) • Translated and adapted in different countries

● SNOMED CT (Systematized Nomenclature of Medicine – clinical terms, IHTSDO);  401,200 terms • • • •

Comprehensive clinical terminology,  Multi‐hierarchical ontology Intended for use in EHR, and to semantic interpretation of EHR Translated in licensed countries

www.orpha.net

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Terminologies currently used ● OMIM (Online Mendelian Inheritance in Man): 7,964 terms • • • •

Genetic disorders and phenotypes (regardless their rarity) Organised by genes Use in (genetic) databases English only

● Orphanet terminology: Orpha codes (Inserm); 9,444 terms • Specific for rare diseases

www.orpha.net

Orphanet terminology • Each entry (group, disorder, subtype) is given a unique, stable ORPHA code • Each entry is given a preferred term and as many synonyms as necessary • Translated in 7 languages (EN‐ FR – ES – IT – PT – DE – NL) • Classification is multi‐hierarchical • Orphanet terminology is aligned with international terminologies in use  • Nomenclature and classifications are updated monthly.

www.orpha.net

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Orphanet terminology • Produced by the INSERM (France), hosting Orphanet, the EU RD  database – Institutional support

• Under CreativeCommons – Free for re‐use

• Strong position in international terminologies – Ongoing process to be a WHO collaborating center • Population and updates of ICD11

– Ongoing MoU with IHTSDO (SNOMED CT) • Population of SNOMED CT and mappings

www.orpha.net

A multidimensional classification • •

By medical specialty Based on international literature  and experts advice

www.orpha.net

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Mappings to other terminologies •

Disorders mapped to ICD‐10 (manually)

•

Disorders mapped to OMIM (manually)

•

Disorders mapped to UMLS, MeSH, SNOMED CT, MedDRA (semi‐ automatically)

•

Information on the validation status is noted

•

Updates depending on the target terminology

•

•

Monthly (ICD10, OMIM)

•

Twice a year (UMLS, SNOMED CT, MeSH, MedDRA)

Mappings are qualified (exact ; narrow‐to‐broad ; broad‐to‐narrow)

www.orpha.net

Qualifying mappings

ICD‐10, OMIM, UMLS, MeSH, SNOMED CT, MedDRA  E  exact mapping (the terms and the concepts are equivalent)  NTBT  narrower term maps to a broader term  BTNT  broader term maps to a narrower term  W  incorrect mapping (two different concepts)  ND  not yet decided/unable to decide    The following are attributed to ICD10 codes only : Specific code  The term has its own code in the ICD10  Inclusion term  The term is included under a ICD10 category and has not its own code  Index term  The term is oncluded in ICD10 index and refers to one more general code  Attributed code  The term does not exist in ICD10 and a code was attributed by Orphanet  

www.orpha.net

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How many RD are included? • Orphanet terminology • 9,444 Orpha codes

• ICD10

• 466 specific codes matching Orpha codes (= EXACT mappings) • 431 inclusion terms matching Orpha codes • 82 index terms matching Orpha codes → Total: only 979 Orpha codes with an ICD‐10 mention But >80% of Orpha codes have been attributed an ICD10 code

• SNOMED CT (from UMLS AA2013) •

On 15,043 candidate mappings, 3,541 were EXACT (2,883 Orpha codes)

• OMIM • On 6,617 total mappings, 3,380 Orpha codes are exactly mapped

www.orpha.net

The ICD ‐ 11 RD-TAG input since 2009 > 5,000 RD transmitted to WHO > 3,000 definitions Introduced by Orphanet Currently, resolution of known problems, linearizations, tests Still some conflicts to solve between TAGs Release expected end 2017 Need for an update process (ORPHA – ICD11 alignments to be incorporated in ICD11) www.orpha.net

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Ongoing initiatives implementing Orphacodes

www.orpha.net

France: ORPHA to complement ICD10

Lord.bndmr.fr

Rémy Choquet, BNDMR project leader, ISPRA, 2014 www.orpha.net

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Germany: Orpha aligned to ICD10 • alpha‐ID attributed to each ICD10‐GM term • Orpha terms incorporated • alignement of ORPHA code and ICD10‐GM provides new alpha‐ID

Stephanie Weber, DIMDI ISPRA 2014 www.orpha.net

Italy: alignments + multi‐hierarchies • Automatic tool • Based on ORPHA – ICD10 alignments • Retrieving information on the health care utilisation

Paola Facchin, Venento registry, ISPRA 2014 www.orpha.net

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Needs at MS and EU level

www.orpha.net

Needs at EU level ORPHANET (EU)

FR Orpha codes

DE alpha-ID

IT ICD-10 Orpha codes

Definition of a common level of interoperability & Codification standards

www.orpha.net

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Next steps Steering, maintaining and promoting the adoption of Orphacodes across MS ¾ WP5 in RD‐ACTION (joint action 2015‐2017) • Common denominator at EU level • Guidelines and coding instructions • Definition of a common resource • To ensure consistency in quality of data • To allow interoperability between MS

www.orpha.net

To find the Orphanet nomenclature Alphabetical list of names and synonyms with ORPHA code Updated every 6 months Translated PDF (download, print)

ORPHA nomenclature Cross‐references Monthly updated 7 languages For download XML

www.orpha.net

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Orphanet Rare Diseases Ontology ‐ ORDO

EBI ‐ OLS

BioPortal

Orphadata

www.orpha.net

Thank you for your attention!

www.orpha.net

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Avril DALY was elected to the EURORDIS Board of Directors in 2009, and has been VicePresident of EURORDIS since 2012. As CEO of the Irish charity Fighting Blindness Avril is responsible for raising awareness of retinal degenerative diseases among the general public, health care professionals and policy makers as well as the implementation of the organisations strategic development plan. Avril is the current Chairperson of the Genetic and Rare Disorders Organisation (GRDO), the Irish voluntary umbrella group supporting Irish families affected by genetic and rare disorders. In 2011 she was appointed to the steering committee working towards the development of the Irish National Plan for Rare Diseases at the Department of Health. Avril represents Retina Europe at the European Patients Forum and through her work with Fighting Blindness, is a board member of the Medical Research Charities Group (MRCG and, the Irish Platform for Patients' Organisations, Science and Industry (IPPOSI). Avril represents EURORDIS at International Conferences throughout Europe and beyond and is part of the interim working group for the European Year for Rare Diseases. Avril is a Business & Media Studies Graduate. She was diagnosed with the rare retinal condition Retinitis Pigmentosa in 1998.

Contact information: Avril Daly, CEO Fighting Blindness 3rd Floor, 7 Ely Place Dublin 2, Ireland Email: [email protected]

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The History of Rare Disease Day

The Spirit of Rare Disease Day

• Initiated in 2008 by EURORDIS /  Council of National Alliances as a  patient‐driven awareness campaign

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The Spirit of Rare Disease Day • By 2010, participation was open to anyone with  a genuine interest in rare diseases:  • Politicians • Public authorities • Policy‐makers • Industry representatives • Researchers • Health professionals  • Other interested parties  • You can become a Friend of Rare Disease Day!

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Rare Disease Day • EURORDIS owns the intellectual property  worldwide and therefore dictates the  conditions for use

• Free to download if keep within  the spirit ‐ No commercial use of  logo • Network of 30 National Alliances  who manage events in country • Logo not to be modified

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Patient‐Driven

This patient‐driven  initiative has experienced  phenomenal growth since it  started in 2008…….

Countries and Regions Participating 18 in 2008

30 in 2009

46 in 2010

55 in 2011

63 in 2012

72 in 2013

84 in 2014

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Patient‐Driven

In 2015, hundreds of patient  organisations are holding thousands  of events around the world,  in all 5 continents New countries in 2015:  Bolivia, Bangladesh, Madagascar

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Themes 2008 ‐ 2015 2015: Day by Day, Hand in Hand 2014: Join Together for Better Care  2013: Rare Disorders Without Borders 2012: Rare But Strong Together 2011: Rare But Equal 2010: Patients and Researchers – Partners for Life 2009: Patient Care – A Public Affair 2008: A Rare Day for Very Special People

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Developing Communications Tools  2008 ‐ Logo, Infopack, Poster 2009 ‐ Added Facebook, Flickr, Twitter, YouTube 2010 ‐ Friends of Rare Disease Day  2011 ‐ New turquoise visual  2012 ‐ Official video  2013 ‐ Official video and poster  2014 ‐ New website, Ambassador  2015 – Webinars, New Mobile site!

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Successes and Difficulties  • Events that worked – formats can  change depending on local focus • Getting media interested – having a  bank of stories representing all  stakeholders • Getting politicians involved – clear  message  • Fundraising – creating momentum – diversification

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and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Achieving Our Goals We have used Rare Disease Day as a  strategy to achieve our goals.  ADVOCACY It has allowed us to position our advocacy work. NATIONAL PLANS This has in turn helped us to achieve the publication of  national plans and strategies.

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Achieving Our Goals BREAKING ISOLATION Rare Disease Day breaks the isolation of living with rare  diseases for patients who are having difficulty accessing  information and connecting with other patients.  DEVELOPING COMMUNITIES By creating the ability for people to communicate online,  it has allowed connection across Europe and enables  contact with others who are sharing your voice or who  may be speaking on your behalf.

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and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Achieving Our Goals INVOLVING STAKEHOLDERS The more Rare Disease Day success we achieve, the more  stakeholders are getting involved. PROVIDING INFORMATION This in turn leads to the need for more information to be  provided across a wide spectrum of issues. WORKING TOGETHER Therefore, there is increased pressure on national alliances  and support groups for people with rare diseases to  provide up to the minute information. 

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Achieving Our Goals This is a very positive place to be.  It encourage stakeholders from all  backgrounds but who have a shared interest  in the field, to work much more closely  together for their common goal. 

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and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

A European Position UNIQUE CONTEXT Rare Diseases are unique in the European context in  bringing patients together and the European Union  has been the perfect platform for shaping policy and  strategy for Rare Disease National Plans. COLLECTIVE APPROACH Rare Disease Day has allowed us to demonstrate  that a collective approach can breed real success  and has shown effective collaboration across many  diverse jurisdictions.

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

Working for Patients PATIENT NEEDS The needs of patients are the same. We learn from each  other through relationships forged through Rare Disease  Day.  Every year we are bringing new people in with new ideas  and approaches but the same objective: 

To change the lives of people living with rare diseases.

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But……

We can’t think that we’ve cracked it!

The National Plans have been written and  published.

Now we need implementation.

That’s where people like YOU need to share your  thoughts and ideas as an important part of this  dynamic community.

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

The Strategy

The initial campaign was to make rare  diseases a public health priority, and we have  grown from there.

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

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We have had great success  and achieved many of our  initial objectives……..

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1999 – 2009 –

2019 –

European Year of Rare Diseases

That year will cement Rare Diseases as a  cornerstone of international healthcare as we emerge  into a new era of development and innovation in  healthcare and new technology treatments. 

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

European Year of Rare Diseases We need your support in our campaign to  establish the European Year of Rare  Diseases in 2019. Orphan Drugs Act EU Directive to develop national  plans and strategies for Rare Diseases European Year of Rare Diseases

and medical research often has its origins at EU level  – we must be active on two fronts EU/Nationally  Patients are active in developing policy involved in  areas such as clinical trail development, regulation  and access to emerging technologies Patients are represented at EMA,COMP CHMP among other groups

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Thank You 

QUESTIONS ?

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Denis COSTELLO has worked with EURORDIS since 2008 as the organisation’s Online Communications Manager. During that time he has led the launch and operation of RareConnect, a multilingual social network for patients and families living with rare diseases www.rareconnect.org, as well as being part of the team that oversees the online awareness campaign around Rare Disease Day (last day of February) www.rarediseaseday.org He is a regular speaker at international conferences (European Hematology Association, ECCO, Skeletal Care Academy). His responsibilities also include working with rare disease patient organisations internationally to build effective networks, raise awareness of rare diseases, and support patient-led initiatives that engage with the broader public. He enjoys putting a specific focus on the opportunities provided by online communication tools and social media. Prior career experiences include running his own technology firm while also presenting his favorite classical music on Irish national radio.

Contact information: Denis Costello Web Communications Senior Manager & RareConnect Project Leader EURORDIS Barcelona office Fundacio Doctor Robert, UAB Sant Antoni Maria Claret, 171 08041-Barcelona, Spain Email: [email protected]

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Connecting Rare Disease Patients Globally

Denis Costello, EURORDIS: RareConnect Project Leader

|

ERTC, Brussels, February 2015

1

Patient-led Social Network for Rare Diseases. 2

www.rareconnect.org

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RareConnect in numbers

72 disease-specific communities across 5 languages 600,000 visitors in 2014 (224 countries) 560 partner patient orgs (40 countries) 250 moderators (20 countries) +100,000 words translated/month

3

RareConnect Top 20

4

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Some of our 72 communities • • • • • • • • • • • • • • • •

Alkaptonuria (AKU) Alstrom Syndrome Alternating Hemiplegia (AHC) Amyloidosis Apert Syndrome (AS) Atypical Hemolytic Uremic Syn. (aHUS) Behçet’s Syndrome CAPS Castleman Disease (CD) CDG Choroideremia (CHM) Coats Disease Cobb syndrome Cone‐rod dystrophies (CRD) Cryoglobulinemia Cutis marmorata telangiectatica congenita (CMTC) Cystinosis Dravet Syndrome DysNet Ectodermal Dysplasia

• • • •

• • • • • • • • • • • • • • • •

Ehlers‐Danlos Syndrome (EDS) Epidermolysis Bullosa (EB) Erdheim‐Chester Disease (ECD) Evans Syndrome Familial Mediterranean Fever  (FMF) Fibromuscular Dysplasia (FMD) FOXP1 Glut1 DS Hemiconvulsion‐hemiplegia‐ epilepsy syndrome (HHE) Hereditary Leiomyomatosis and  Renal Cell Cancer (HLRCC) Hereditary Spastic Paraplegia  (HSP) Idiopathic Pulmonary Fibrosis  (IPF) Kallmann syndrome (KS) Leigh Syndrome Lipoprotein Lipase Deficiency  (LPLD) Lowe Syndrome

• • • • • • • • • • • • • • • •

Lymphangioleiomyomatosis (LAM) Malignant Infantile  Osteopetrosis (MIOP) Marinesco‐Sjogren Syndrome Mastocytosis and Mast Cell  Activation Disorders Moebius syndrome Moyamoya disease Multiple Endocrine Neoplasia  (MEN) Multiple Myeloma Multiple System Atrophy (MSA) Myasthenia Gravis (MG) Narcolepsy Neuroacanthocytosis Neurodegeneration with Brain  Iron Accumulation NBIA Niemann‐Pick disease type C Paraneoplastic Neurological syn.  (PNS) Pemphigus and Pemphigoid

6

1.Working together 6

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Involvement of 566 Patient Groups from 40  countries 7

• • • • • • • • • • • • • • • • • • •

NOMID Alliance AMWS/CINCA VHL Family Alliance International German Assoc. for VHL Families Danish Assoc. for VHL Alianza española de familias de VHL VHL France A Magyar VHL Társaság Dutch VHL Organization Canadian CAPS Network VHL Contact Group U.K. AIFP Stichting FMF‐Community Nederland AFFMF FMF Montreal AKU Society UK Alcaptonurie France findAKUre Foundation for Children with Atypical  HUS

• • • • • • • • • • • • • • • • • • • •

AIRG Argenina VHL Assoc. SIMBA Italy Ass. Française de Behçet As. Española de Behçet DebRA International DebRA Belgium DebRA Croatia DebRA UK DebRA Austria EB‐Haus Austria UK Behçet’s Syndrome  Society DEBRA España DebRA Canada Fundación DEBRA México AHC Assoc. Iceland A.I.S.EA AESHA AHC Foundation L’aim AKU

• • • • • • • • • • • • • • • • • • •

DebRA Norway DebRA Italy Cystinosis Support Australia Cystinosis Foun. France Cystinosis Support Germany Cystinosis Foun. Ireland Mexican Cystinosis Association Cystinosis Group Netherlands Cystinosis Foun. UK Cystinosis Foun. USA Cystinosis Research Network South Africa Support Group Cystinosis Research Foundation Danish HSP Assoc. A.SL‐HSP France Spanish HSP Assoc. Italian Assoc. for Living with SP Holland Asoc. of Neuromusc.  Disease Spastic Paraplegia Foundation

2.BREAKING BORDERS 8

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Machine and Human Translation. 9

www.rareconnect.org

3.QUALITY 10

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Over 250 moderators from +20 countries Tools:

1. 2. 3. 4. 5. 6.

Online Community Charter/Guidelines Moderator Training Guide (How to be a good moderator) Day to day support via 2 Full time community managers A private mailing list for peer support Webinars A Blog to share best practises moderators.rareconnect.org

7. Face to face workshops 11

RareConnect – Oct 2011 Workshop, Paris

12

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Rob Pleticha - Online Communities Manager - Aged 28, Education in Psychology (Uni. Of Illinois) - Previous experience: 2 Years at Romanian RD Alliance Marta Campabadal - Online Communities Manager - 24 years old, from Spain - Social Media Coordination - Spanish Outreach - Education in Marketing & Community Management

13

Carmen Lasheras - Online Communities Manager - Pharmacist - Working on Web-RADR pharmacovigilance project

Activities

14

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Live and on-demand webinars.

15Rich Patient exchange

Explaining research and clinical trials.

16Bridging relationship between patients and researchers

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Global map of Behcet’s Syndrome patients

17Conducted through RareConnect

Poll of patients living with aHUS

18Conducted through RareConnect

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Helping groups raise funds

19Crowdfunding campaign for Ectodermal Dysplasia

Involvement in other projects IMI project (started 2014 Q4):

• WEB-RADR, Pharmacovigilance signal detection via Social Media data mining. ƒ ƒ

RareConnect communities to be one source of data RareConnect to provide 1 community manager to coordinate patient participation and patient input to governance (with Francois Houyez)

20

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Rebranding from March 2015

21New logo

New logo

Discussion Groups 22Possibilities… Questions and Anwers…

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Discussion Groups

23New features

Thanks And if you’d like to contact us: Here we are: www.facebook.com/rareconnect

www

www.rareconnect.org

@rareconnect

[email protected]

www.youtube.com/user/eurordis

+34 663 092 790

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Charlotte GUEYDAN has a PhD. in molecular biology and biochemistry. She has worked as a research associate from 2010 to 2012. She joined Orphanet (www.orpha.net) late 2012 as Quality Manager.

At Orphanet, she is in charge of the development of the quality assurance policy of the Orphanet database, of organising and implement quality control processes and quality assurance and of coordinating the teams in the Orphanet network in carrying out the actions inherent in the quality assurance process and quality control.

Contact information: Charlotte Gueydan, Ph.D. Quality Manager Orphanet - Inserm US14 Plateforme Maladies Rares 96 rue Didot 75014 Paris, France Email: [email protected]

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Orphanet beyond Europe

C. Gueydan, S. Maiella, M. Arles, S. Peixoto, V. Lanneau, A. Rath ORPHANET - Inserm US14, Paris, France [email protected] EURORDIS Round Table of Companies Brussels 25 February 2015

Orphanet was established in 1997 to address identified problems….. Lack of information

Inventory and Encyclopaedia

Scarce expertise

Directory of experts/clinics

Too few collaborations

Directory of research projects

Difficult recruitment

Directory of clinical trials

Isolation of patients

Directory of patient organisations Freely available on the internet www.orpha.net

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Orphanet, the international database for rare  diseases 

www.orpha.net

The Orphanet Consortium 1997 : French project 1 country (FR) … 2001 : European project (Joint Action) 5 countries (+ BE, DE, IT, CH) … 2010 : 35 countries (+ES, GB, PT, NL,…) 2011 : International project 36 countries (+ CA) 2012 : 37 countries (+ AU) …

2015 : Joint Action “RD Action” 39 countries ( +TN, GE) www.orpha.net

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Edition process

Orphanews PubMed queries …

Experts Patients groups Professionals

Annotation Indexation Writing

Completeness Coherence

www.orpha.net

Orphanet content in Europe and beyond > 2000

> 600

> 500

> 3,900 *

>  20

6,657 diseases  > 4,500 diseases

4,229 diseases  2,969 diseases  2,725 diseases  1,816 diseases 

> 1,500

1,229 diseases 

> 450

> 2,300 diseases  > 12,164

> 50  2,689 diseases 

> 3,300  genes

> 4,500 diseases

> 2,673 > 1,685 (35,602 tests) > 6,500

www.orpha.net

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Different applications for different users

orpha.net

orphadata.org

Orphanet  database

Orphanet  Report Series

Ontology Nanopublica tions

www.orpha.net

Providing information: orpha.net • International website freely-accessible • Available in 7 different languages

(with points of entry for each partner countries)

• On rare diseases, orphan drugs, expert ressources,.. • Dedicated to a broad range of end-users (patients, healthcare professionals, regulators, pharmaceutical companies…)

• Single query search (disease, gene, etc..) Æ visualization of all the different data linked • ~ 54,000 pages viewed/day from 211 countries www.orpha.net

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Providing data : orphadata.org

• High-quality & freely accessible dataset, in a reusable format (XML) • Partial extractions of the data stored in Orphanet:

• 8 are freely accessible • 6 are accessible after the signature of a data transfer agreement • Partnerships possible

Æ Pre-competitive tool highly-valuable to support decision-making in the field of rare diseases www.orpha.net

Applications deriving from Orphanet:    France

Funding: French General Directorate of Health; Groupama Health Foundation www.orpha.net

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Applications deriving from Orphanet: Switzerland

Funding: CHUG www.orpha.net

Applications deriving from Orphanet: Germany

Funding; German Ministry of Health

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Providing dissemination tools

www.orpha.net

International influence EU Communication  (2008) « Rare diseases ‐ Europe's challenges  »

European Crossboarder  Healthcare Directive

EU Council  Recommandations (9 June 2009)

EBI Source of information  and part of Elixir’s  French node

EMA Data sharing: figures of  prevalence established by  Orphanet

ECRIN WHO & SNOMED CT Production of ICD‐11 & revision of  SNOMED nomenclature

IRDiRC Database of  reference

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Rare diseases hub for European  clinical research infrastructures  network www.orpha.net

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John FORMAN has been Executive Director of the New Zealand Organisation for Rare Disorders (NZORD) since June 2001 and is also engaged in several volunteer activities, including as President of ICORD, the International Conference on Rare Disease and Orphan Drugs. John is the father of adult twins with Alpha-Mannosidosis. He had an early career as a union organizer and disability services provider. Currently his career focuses on the promotion of better information, care and research on health issues, and the promotion of rights and quality of life, for those with rare disorders and disability. Rights and ethics in the health and disability system are a particular interest, from the perspective of protection of vulnerable people while capturing population benefits, but also in relation to access to care and services in a rationed environment.

Contact information: John Forman Executive Director NZ Organisation for Rare Disorders Post: PO Box 38-538, Wellington Mail Centre, Petone 5045 New-Zealand Email: [email protected]

Marlene E. HAFFNER, MD, MPH is the CEO of Haffner Associates, LLC a firm dedicated to the strategy, development and policy of drug development with a special emphasis on rare diseases and the products that treatment them. Prior to establishing her own company, in March 2009, she was for two years Executive Director, Global Regulatory Policy and Intelligence at Amgen, Inc. For 20 years, Dr. Haffner served as Director of the Office of Orphan Products Development (OOPD) of the Food and Drug Administration (FDA). As OOPD Director she was responsible for the leadership and management of the FDA orphan products development program, the first Orphan Products program in the world. In addition to her FDA responsibilities, Dr. Haffner assisted in the development of Orphan Drug programs in the EU, Japan, Australia and beyond. She is well known as an expert in orphan drug development and is a sought after speaker and consultant in that area of regulatory science.

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In addition to her consulting activities Marlene is Adjunct Professor, Department of Preventive Medicine and Biometrics, and Clinical Professor, Department of Medicine, at the F. Edward Hébert School of Medicine, Uniformed Services University of the Health Sciences (USUHS) in Bethesda, Maryland. She received her MD from the George Washington University School of Medicine. She received further training in internal medicine, dermatology and hematology at the Presbyterian Hospital, New York and that the Albert Einstein College of Medicine, New York. She received an MPH from the Johns Hopkins University Bloomberg School of Public Health. A sought after speaker and consultant, Dr. Haffner has received many awards for her work in drug development including The Outstanding Contributions to Pharmaceutical Medicine Award from the American Academy of Pharmaceutical Physicians, and the Woodrow Wilson Award for Outstanding Government Service from the Johns Hopkins University. In 2014 she received the Lifetime Achievement Award from EURORDIS – the European Organization for Rare Diseases. She is the author of multiple articles in peer reviewed literature concerning issues of orphan product development.

Contact information: Marlene E. Haffner, MD, MPH Chief Executive Officer Haffner Associates, LLC Orphan Solutions 11616 Danville Drive Rockville, MD 20852 - USA Email: [email protected]

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John Forman President of ICORD ICORD ‐ a vehicle to catalyse stakeholders and raise policy awareness in  countries needing policy on rare diseases

Introducing John Married to Judith Twins Timothy and Hollie Born 14 November 1974 Alpha‐Mannosidosis, an  insidiously progressive  Lysosomal storage disease

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Introducing John ¾Chair of Lysosomal Diseases New Zealand since 1999 ¾Executive Director of NZ Organisation for Rare Disorders since 2000 ¾Vice‐President of ISMRD, the International advocate for Glycoprotein storage  diseases ¾Chair of the NZ Carers Alliance ¾Has published on health policy, ethics, screening, patient perspectives and  animal model research ¾Current President of ICORD

Introducing ICORD ¾Society set up in 2007 (first ICORD conference 2005 in Stockholm) ¾A multi‐stakeholder society focused on rare diseases and orphan drugs ¾Members include health officials, regulators, researchers, clinicians, industry,  academics, patients, advocacy group leaders ¾Has held 9 conferences  ¾USA, Sweden, Japan, Russia, Argentina, Belgium, Italy, Spain, the Netherlands ¾Next meeting in Mexico, October 2015 ¾2016 – South Africa?? New Zealand??

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ICORD aims ¾Organise annual conferences ¾Promote research, ethics, policies and action on RD ¾Provide a global forum for all stakeholders ¾Enhance international discussion, cooperation and coordination of  policies and actions ¾Exchange best practices and develop approaches and tools to address  common issues

ICORD past Presidents ¾Jan‐Inge Henter – Karolinska Institute, Sweden ¾Steve Groft – NIH, USA ¾Domenica Taruscio – ISS, Italy ¾Virginia Llera – Geiser Foundation, Argentina

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ICORD’s current priorities ¾Providing annual conferences and other forums ¾Influencing government policies, especially in the developing world ¾Providing input to the UN, WHO, World Bank ¾Promoting our declaration on rare disease policies and action plans

ICORD’s focus on policy ¾Primary prevention and screening ¾Early and accurate diagnosis ¾Access to clinical care services ¾Palliative care, social support ¾Promotion of research & drug discovery ¾Improving medicine regulation and medicine access ¾The whole life course “womb to tomb”

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ICORD’s policy statement ¾The Yukiwariso Declaration ¾Yukiwariso is Japanese for Hepatica, a perennial in the buttercup family. It  breaks through the late snow to welcome spring and signal new life and hope. It  is a rare beauty ¾ICORD’s Yukiwariso Declaration on Rare Diseases was launched in February  2012  at the Tokyo  meeting ¾Published in Acta Paediatrica Vol 101, Issue 8, pp 805‐807, August 2012  (summary version) ¾Also at www.icord.se (full version)

The Yukiwariso Declaration ¾The declaration provides a rationale and framework for legislation,  policies, action plans ¾Only about 30 of 196 countries have rare disease policies – not all of  them are comprehensive ¾166 countries (85%) have nothing

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The Declaration’s 6 Principles ¾1. RDs are a significant public health issue – 8% ¾2. Human rights and government duties are involved ¾3. RD research and product development should be supported ¾4. A comprehensive approach to rare diseases should be adopted ¾5. The importance of patient autonomy, consent and information needs ¾6. Include patient groups in policy and services

12 guidance points ¾1. Disparities and actions to address them ¾2. Human rights and actions to protect them ¾3. Equity in resource allocation ¾4. Specific counterbalancing policies for inherent disadvantage ¾5. Health economics must be balanced with equity and justice ¾6. Benefits to common disease knowledge from RD research

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12 guidance points (continued) ¾7. Gain in clinical care and prevention from research towards therapy ¾8. Encourage public good contributions from industry ¾9. Include patient groups at all levels ¾10. Develop and support patient groups ¾11. Review risk/benefit evaluation criteria  ¾12. Promote aid for developing nations

Working together for rare diseases ¾ICORD welcomes efforts based on international collaboration ¾Rare Disease International – the patient voices ¾IRDiRC – research collaboration ¾Rare Disease Day – international awareness building ¾GRDR – Global registry program ¾and more

¾ICORD adds the multi‐stakeholder perspective ¾The more voices with consistent messages, the better chance of impact

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Thank you

¾ICORD website www.icord.se ¾Email [email protected]

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