Directory of ePAG [European Patient Advocacy Groups] representatives

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Summary 1. Rare bone ePAG 2. Rare cancer ePAG (solid tumours in adults) 3. Rare connective tissue and musculoskeletal diseases ePAG 4. Rare craniofacial anomalies and ENT (ear, nose and throat) disorders ePAG 5. Rare endocrine diseases ePAG 6. Rare eye diseases ePAG 7. Rare gastrointestinal diseases 8. Rare paediatric Cancer ePAG 9. Rare haematological diseases ePAG 10. Rare hepatic diseases ePAG 11. Rare hereditary metabolic disorders ePAG 12. Rare immunological & auto inflammatory diseases ePAG 13. Rare malformations / developmental anomalies/and rare intellectual disabilities ePAG 14. Rare multi-systemic vascular diseases ePAG 2 / 33

15. Rare neurological diseases ePAG 16. Rare neuromuscular diseases ePAG 17. Rare renal diseases ePAG 18. Rare skin disorders ePAG 19. Rare urogenital diseases ePAG 20. Rare Pulmonary ePAG 21. Rare Genetic Tumour Risk Syndromes ePAG 22. Rare Epilepsies ePAG 23. Transplant Child ePAG 24. Guard Heart ePAGT

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European Patient Advocacy Groups (ePAGs) are patient forums comprised by ePAG Patient Advocates designated by Patient Organisations wishing to engage in a specific European Reference Network (ERN). Each European Reference Network has one European Patient Advocacy Group.

Rare disease Patient Organisations, EURORDIS members and non-members established in Europe, may endorse ePAG Patient Advocates to be actively involved in the activities and governance structure of a European Reference Network. Each of the 24 ePAGs coordinates the recruitment of new ePAG Patient Advocates in collaboration with the ERN Network Coordinator. The application process and eligibility criteria is detailed in the ePAG Constitution and Rules of Procedure.

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1. Rare Bone ePAG  Inês Alves, Fundación ALPE Acondroplasia  Rebecca Tvedt Skarberg, Osteogenesis lmperfecta Federation Europe  Elisabeth Martin, Association Ollier-Maffucci Europe  Luc Pascal Schroots, Fibrodysplasia Ossificans Progressiva Stichting Nederland

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2. Rare Cancer ePAG  Markus Wartenberg , Das Lebenshaus e.V. - Die Organisation fürPatienten mit seltenen Soliden Tumoren:GIST/Sarkome/Nierenkrebs  Estelle Lecointe, ASSOCIATION FRANÇAISE DES PATIENTS DU GIST - ENSEMBLE CONTRE LE GIST  Teodora Kolarova, International Neuroendocrine Cancer Alliance (INCA)  Catherine Bouvier, NET patient Foundation UK  James Caldwell, Northern Ireland Rare Disease Partnership  Jo Grey, Association for Multiple Endocrine Neoplasia Disorders  Iain Galloway, MPNE Ocular/Rare  Isabelle Manneh-Vangramberen, European Cancer Patient Coalition  Umberto Tassini, Associazione Italiana Laryngectomizzati (AILAR)  Kathy Oliver, International Brain Tumour Alliance (IBTA)

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3. Rare connective tissue and musculoskeletal diseases ePAG  Charissa Frank, Vlaamse Vereniging voor Erfelijke Bindweefselaandoeningen  Ilaria Galetti , Gruppo Italiano per la Lotta alla Sclerodermia ONLUS  Marianne Riviere, Association Française du Lupus et autres Maladies Auto-Immunes  Alain Cornet, Lupus Europe  Ana Vieira, Liga Portuguesa contra as Doenças Reumáticas  Juergen Grunert, Deutsche Ehlers-Danlos Initiative e. V  Diana Marinello, Associazione Italiana Sindrome e Malattia di Behçet (SIMBA)

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4. Rare craniofacial anomalies and ENT (ear, nose and throat) disorders ePAG  Sara Perez, Asociación Nacional Sindrome de Joubert  Gareth Davies, European Cleft Organisation  Barbara Lieuwen, Voorzitter Laposa  Sandra Mösche, Elterninitiative Apert-Syndrom und verwandte Fehlbildungen e. V.  Thomas Luck, Netzrverk Goldenhar-Syndrom undOhrmuscheldysplasie e.V

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5. Rare endocrine diseases ePAG             

Jette Kristensen, Addison Foreningen i Danmark Johan Beun, Bijniervereniging NVACP Carole Delorme, Association surénale Manuela Brösamle, AGS- Eltern- und Patienteninitiative e.V. Patricia Carl, Bundesverband Kleinüschsige Menschen und ihre Familien e.V. Elisabetta Freo, L’Associazione Famiglie di Soggetti con Deficit dell’Ormone della Crescita ed altre Patologie Johan de Graaf, Nederlandse Hypofyse Stichting (Dutch Pituitary Foundation) Diana Vitali, SOD Italia - Associazione Italiana Displasia Setto Ottica e Ipoplasia del Nervo Ottico Marika Porrey, Schildklier Organisatie Nederland Jo Grey, Association for Multiple Endocrine Neoplasia Disorders Petra Bruegmann, European MEN Alliance Marina Valenti, Italian Association for Alstrom Syndrome Arlene Smyth, Turner Syndrome Support Society

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6. Rare eye diseases ePAG  Avril Daly, Retina International  Christina Fasser, Retina International  Michael Längsfeld, PRO RETINA Deutschland  Paula Morandi, MITOCON ONLUS  Gaelle Jouanjan, FRANCE & ANIRIDIA EUROPE  Daniela Brohlburg, PRO RETINA Deutschland  Russel Wheeler, Leber's Hereditary Optic Neuropathy Society

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7. Rare gastrointestinal diseases ePAG  Anke Widenmann Grolig, Patienten- und Selbsthilfeorganisation für Kinder und Erwachsene mit kranker Speiseröhre  Graham Slater, The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups e.V.  Nicole Schwarzer, Selbsthilfeorganisation für Menschen mit Anorektalfehlbildungen  Benoit Decavele, La Vie par un Fil  Beverley Power, CDH UK  Ester Garne, UNIVERSITY OF SOUTHERN DENMARK  Joanne Fruithof, The Federation of Esophageal Atresia and Tracheo-Esophageal Fistula Support Groups e.V.  Frederic Armand, ASSOCIATION FRANÇAISE DE L'ATRÉSIE DE L'ŒSOPHAGE  Fanny Cauvet, European Society of Pediatric Gastroenterology Hepatology and Nutrition  Bailly Villette, Leonore  Antje Feldtmann-Korn, Kise e.V

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 Duccio Cavalieri, AMORHI.  Annette Lemli, Selbsthilfeorganisation für Menschen mit Anorektalfehlbildungen

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8. Rare Pediatric Cancer ePAG  Anita Kienesberger, Austrian Childhood Cancer Organization & Childhood Cancer International – Europe  Luisa Basset, Federación Española de Padres de Niños con Cáncer & Childhood Cancer International – Europe  Anne Goeres, Fondatioun Kriibskrank Kanner & Childhood Cancer International – Europe  Lejla Kamerić, Heart for kids with cancer in FBiH (Srce za djecu koja boluju od raka u FBiH) & Childhood Cancer International – Europe

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9. Rare hematological diseases ePAG  Amanda Bok, European Haemophilia Consortium  Jan Geissler, Leukemia Patient Advocates Foundation  Sophie Wintrich, MDS UK Patient Support Group  Angelo Loris Brunetta, Associazione Ligure Thalassemici Onlus  Ananda Plate, Myeloma Patients Europe  Maria Piggin, PNH Support UK  Pierre Aumont, Association de Soutien et d’Information à la Leucémie Lymphoïde Chronique et la maladie de Waldenström

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10. Rare hepatic diseases ePAG  Marleen Kaatee, PSC Patients Europe  Robert Dixon & Robert Mitchell Thain, PBC Foundation  Barbara Borik, Deutsche Morbus Crohn / Colitis ulcerosa Vereinigung (DCCV) e.V.  José Willemse, Dutch Liver Patients Association (Nederlandse Leverpatiënten Vereniging)  Lone McColaugh, Leverforeningen  Alison Taylor, Children’s Liver Disease Foundation  Biljana Mirceska & Milan Mishkovikj, NGO SLAP - Save Liver Association of Patients  Frank Willersinn, Alpha-1 Plus Belgium & Sandrine Lefrancois, Alpha 1 France

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11. Rare hereditary metabolic disorders ePAG*  Lut de Baere – BOKS  Anne Hugon, Association Francophone des Glycogénoses  Rita Francisco, APCDG  Anne Grethe Lauridson, European Gaucher Alliance  Tanya Collin, European Gaucher Alliance  Renza Barbon, UNIAMO

*This list is incomplete and will be updated in due course

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12. Rare immunological & auto inflammatory diseases ePAG  Diana Marinello, Associazione Italiana Sindrome e Malattia di Behcet  John Mills, Vasculitis UK  Peter Verhoeven, Vasculitis Stichting  Richard West, Behcets International  Martine Pergent, IPOPI  Malena Vetterli, FMF & AID  Carlota Villar, Barcelona PID Foundation  Andrea Gressani, Associazione per le immunodeficienze primitive Onlus  Leire Solis, IPOPI - International Patient Organization for Primary Immunodeficiencies  Jose Drabwell, IPOPI  Johan Prévot, IPOPI - International Patient Organization for Primary Immunodeficiencies

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13. Rare malformations / developmental anomalies/and rare intellectual disabilities ePAG 14. Dorica Dan, Romanian National Alliance for Rare Diseases 15. Ammi Sundqvist, International Federation for Spina Bifida and Hydrocephalus 16. Yvonne Milne, Rett Syndrome Europe 17. Anne-Sophie Lapointe, Vaincre les Maladies Lysosomales 18. Gabor Pogany, FEWS - Federation of European Williams Syndrome 19. Claudio Ales, Associazione Italiana per la lotta alle PHTS 20. Annalisa Scopinaro, APWItalia 21. Andrea Baines, Angelman Syndrome Support Education and Research Trust 22. Sue Routledge, Pitt Hopkins UK 23. Nick Meade, Genetic Alliance UK 24. Tobias Arndt, European Dysmelia Reference Information Centre

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25. Beverly Searle, Unique - The Rare Chromosome Disorder Support Group 26. Lauren Roberts, Swan UK 27. Rachel Martin, Angelman Syndrome Support Education and Research Trust 28. Renée Jopp, International Federation for Spina Bifida and Hydrocephalus 29. Tina Nesbitt, SWAN UK 30. Bauwens Lieven, International Federation for Spina Bifida and Hydrocephalus 31.

Jenner Rebecca, Rett UK

32. Pietro Marinelli, ASSOCIAZIONE SMITH-MAGENIS ASM17 ITALIA ONLUS 33. Lisa Court, Angelman Syndrome Support Education and Research Trust 34. Katie Cunnea, Angelman Syndrome Support Education and Research Trust

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14. Rare multi-systemic vascular diseases ePAG  Karen DRUCKMAN, HTT Swiss  Paolo FEDERICI, Associazione Fondazione Italiana HHT ''Onilde Carini''  Claudia Crocione, Associazione Italiana Teleangectasia Emorragica Italiana - HHT ONLUS  Luisa BOTELLA, Asociación HHT España  Christina Grabowski, HTT Europe  Lise Murphy, Svenska Marfanföreningen  Elena de Moya Rubio, MARFAN HILFE DEUTSCHLAND E.V.  Françoise Steinbach, association marfans  Juergen Grunert, Deutsche Ehlers-Danlos Initiative e. V  Charissa Frank, Vlaamse Vereniging voor Erfelijke Bindweefselaandoeningen  Natascha Assies, Nederlands Netwerk voor Lymfoedeem en Lipoedeem  Caroline Van Den Bosch, HEVAS  Rafaella Restaino, FONDAZIONE ALESSANDRA BISCEGLIA W ALE Onlus 20 / 33

 Ange Van Der Velden, Lymphangiomatosis & Gorham Disease Alliance Europe  Favalli Valentina, Magica ONLUS  Romain Alderweireldt, Association Belge du Syndrome de Marfan ASBL

15. Rare neurological diseases ePAG  Cathalijne van Doorne, euro-Ataxia and European Federation of Neurological Associations  Mary Kearney, Friedreich’s Ataxia Research Alliance Ireland (FARA)  Tsveta Schyns-Liharska, European Network for Research on Alternating Hemiplegia, ENRAH  Astri Arnesen, European Huntington Association  Robert Scholten Apeldoorn, Dutch Dystonia Association  John Richard McFarlane, POPSyCLE Foundation  Lori Renna Linton, Euro-HSP  Amanda Rose, Rare Dementia Support UK

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16. Rare neuromuscular diseases ePAG 

Chalmers Hannah, Muscular Dystrophy UK

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Piero Santantonio, MITOCON ONLUS

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Evy Reviers, ALS Liga België

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Jean-Philippe Plançon, Association Française contre les Neuropathies Périphériques

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Bobby Ancil

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Dimitrios Athanasiou, UPPMD and CMWP

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Joaquim Brites, APN

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Mencia De Lemus Belmonte, Trustees of FundAME,

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Emma Del-Rey, AMMI,

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Marguerite Friconneau, AFM-Téléthon

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Massimo Marra, CIDP Italia Onlus

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Alexandre Méjat, ENMC

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Marie-Christine Ouillade, AFM-Téléthon

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Françoise Pelcot

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Alejandra Pereda

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Francisco Javier Perez-Minguez, Ana Carolina Díez Mahou Foundation

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Jacques Salama, AFM-Téléthon

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Sandrine Segovia-Kueny, AFM-Téléthon

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David Stephenson, Muscular Dystrophy UK

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Daniel Tanesse, Charcot-Marie-Tooth France

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Isabela Tudorache, Parent Project Romania - Association for Research and Support in Muscular Dystrophy,

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Diana Van Der Meij-Kim, VSN

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Gerard Wellenberg

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Dominic Wells

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Marisol Montolio, Duchenne Parent Project España

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Judit Varadine Csapo, Angyalszarnyak Hungarian Muscle Dystrophy Association 23 / 33

17. Rare renal diseases ePAG 

Daniel Renault, Association pour l'information et la Recherche sur les Maladies Rénales Génétiques

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Marcel van Hest

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Suzanna Carvajal Arjona

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Nacho Nunez

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Marie Jeanne Pierrat

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Michel Schenkel, FEDERG - Federation of European associations of patients affected by renal diseases

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Marjolein Bos, VKS-Cystinose Groep

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Claudia Sproedt, Cystinose Selbsthilfe e.V.

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Evy van Kempen, Nierpatiënten Vereniging Nederland (Dutch Kidney Patients Association)

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Harris Tess, Ciliopathy Alliance

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Brenda de Coninck

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Marieke van Meel, NephcEurope

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18. Rare skin disorders ePAG  Evanina Morcillo Makow  Ingrid Jageneau, Debra Belgium vzw  Clare Robinson, DEBRA UK  Cinzia Pilo, DEBRA Italia ONLUS – Associazione per la Ricerca sull’Epidermolisi Bollosa  Francesca Sofia, DEBRA Italia ONLUS – Associazione per la Ricerca sull’Epidermolisi Bollosa  Mandy Aldwin, European Network for Ichthyosis  Ivonne Ronchetti, PXE-Italy  Ulrike Holzer, Selbsthilfegruppe Ektodermale Dysplasie e.V.  Flavio Minelli, Unione Italiana Ittiosi  Mike Jaega, DEBRA UK

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 Jose Manuel Montoya Gutierrez, Asociación de Afectados por Displasia Ectodérmica  Bente Villumsen, Hidrosadenitis-Denmark  Jacques Monnet, Incontinentia Pigmenti France  Olivia Gross-Khalifa, Association Française des Dysplasies Ectodermiques  Giulia Volpato, p63 EEC Syndrome International network word communication  Marie-Claude Boiteux, Cutis Laxa Internationale  Jodi Whitehouse, Caring Matters Now  Christian Moser, Freu(n)de Mondscheinkinder  Wafa Chaabi, Enfants de la Lune Association pour le Xeroderma Pigmentosum  Sophie Le Pallec, ASSOCIATION AMALYSTE  Laurence Gallu, Association Pemphigus – Pemphigoïdes France  Hans Jörg Kunte, German Self Aid Group for Adamantiades-Behcet's Disease

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19. Rare urogenital diseases ePAG  Serena Bartezzati, AICI Associazione Italiana Cistite Interstiziale  Jurgen Hensen, ICA Deutschland  Annette Lemli, Selbsthilfeorganisation für Menschen mit Anorektalfehlbildungen  Dalia Aminoff, AIMAR

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20. Rare Pulmonary ePAG 

Liam Galvin, Irish Lung Fibrosis Association

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Hilde de Keyser, Association Muco Vereniging

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Marjo Poulissen, Longfonds

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Cassidy Nicola, Irish Lung Fibrosis Association

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Bernhard Rindlisbacher, KARTAGENER SYNDROM & PRIMÄRE CILIÄRE DYSKINESIE(E.V.)

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Pisana Ferrari, ASSOCIAZIONE IPERTENSIONE POLMONARE ITALIANA

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Marta Almagro, European Lung Foundation

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Kate Hill, June Hancock Mesothelioma Research Fund

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Patrick Vandorpe, HALO

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Carlee Gilbert, ChILD Lung Foundation

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Alessandro Carcano, Associazione Italiana Per La Sindrome Da Ipoventilazione Centrale Congenita

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Dagmar Kauschka, ERWACHSENEN-HISTIOZYTOSE X E.V.

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Bernd Stachetzki, Sarkoidose Netzwerk

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Martone Filippo, Amici Contro la Sarcoidosi Italia ONLUS

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Luc Matthysen, Association de patients souffrant d'hypertension artérielle pulmonaire en Belgique

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Gergely Meszaros, Pulmonary Hypertension Association Europe

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Matt Johnson, Matrixpolicy and EURORDIS

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Guerini Stefano, ASSOCIAZIONE NAZIONALE ALFA1-AT

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21. Rare Genetic Tumour Risk Syndromes ePAG  Claas Röhl, NF Kinder – Verein zur Förderung der Neurofibromatoseforschung Österreich  Anne Micallef, Europa Donna  Stefania Mostaccioli, Lega per la Neurofibromatosi 2-OnlusItalian  Tamara Hussong Milagre, Evita (Portuguese Association of carriers of genetic mutations related to Hereditary Cancer)  Nicola Reents, Familienhilfe Darmkrebs e.V. / Semi-Colon (German patient association for Lynch and Polyposis)  Claudio Ales, Associazione Italiana per la lotta alle PHTS

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22. Rare Epilepsies ePAG  Isabella Brambilla, Dravet Italia Onlus  Anne-Sophie Hallet, Alliance Syndrome de Dravet  Nathalie Coque, Alliance Syndrome Dravet  Emma Williams, Matthew's Friends  Myra de Groot, DSEF  Allison Watson, Ring 20 UK  Carol Anne, CDKL5  Barbara Nicol, Purple Day Spain  Judette Lancrenon, The Paratonnerre Association for FIRES  Fabrizio Mistretta, Insieme per la Ricerca PCDH19 Onlus

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23. Transplantation in Children ePAG*          

Sandrine Lefrancois - Association ADAAT Alpha1-France Pisana Ferrari, PHA Europe Daniela Paulo, Portuguese Children With Liver Disease (HEPATIX) Conchita Velázquez-Gaztelu, NUPA Alba Santos, NUPA Evy van Kempen, Beleidsmedewerker Eigen Regie & Ervaringskennis delen Nana Gomex Mayoral, HEPA Stefano Pavanello, Unione Trapiantati Polmone di Padova Juan Fuertes, PHA Europe Alison Taylor, Children's Liver Disease Foundation Diverse Disease

*This list is incomplete and will be updated in due course

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24. Rare and Low Prevalence Complex Diseases of the Heart ePAG  Edward Callus, European Congenital Heart Disease Organisation  Sophie Pierre, Association des Maladies héréditaires du Rythme Cardiaque  Dayenne Zwaagman, Stichting Hart4Onderzoek  Patricia Vlasman, Stichting Hart4Onderzoek  Brenda Alsemgeest, Stichting Hart4Onderzoek  Ester Costafreda, Asociacion SAMS

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