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A.I.S.EA Onlus Support to the families and support to the research International Patient Network

A.I.S.EA Onlus Support to the families and support to the research International Patient Network. Rosaria Vavassori President of A.I.S.EA – Italian Association for AHC Coordinator of the Project I.B.AHC – Biobank and Clinical Registry for AHC www.ibahc.org A.I.S.EA Onlus

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A.I.S.EA Onlus Support to the families and support to the research International Patient Network

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  1. A.I.S.EA OnlusSupport to the families and support to the researchInternational Patient Network Rosaria Vavassori President of A.I.S.EA – Italian Association for AHC Coordinator of the Project I.B.AHC – Biobank and Clinical Registry for AHC www.ibahc.org A.I.S.EA Onlus Italian Patient Association for Alternating Hemiplegia www.aisea.org

  2. A.I.S.EA OnlusThe Italian Patient Association for AHC • A.I.S.EA – the Italian Association for the Alternating Hemiplegia Syndrome is a non-profit organization founded in April 1999 • The main site is in Verderio Superiore (LC), near Milan. • At present it gathers 115 official members mainly parents and relatives of children affected by AHC • In Italy there are 48 known AHC cases (mean age 20 years, oldest case 48 years) + 2 new cases who’s diagnosis has not yet been validated

  3. A.I.S.EA OnlusOrganization • A board of directors composed by five parents; • A Secretary and Treasurer; • An executive secretary ; • A social assistant; • A Scientific Committee composed of five neurologists and two geneticists • A group of advisors in different fields of the neurosciences (movement disorders, dismorphology, neurorehabilitation)

  4. A.I.S.EA OnlusTwo main goals to achieve Development of the research of the causes of the disease and of an effective treatment Long term goal Both these goals are important for the families and are pursued at the same time A better quality of life: health and social assistance, autonomy, social integration Short-medium term goal

  5. A.I.S.EA OnlusOrdinary activities • Distribution of brochures, medical articles and information about AHC • Participation to Scientific and Medical Congress and sponsorship of informative sessions about AHC • Organization of Family meetings and medical/scientific workshops • Fundraising

  6. A.I.S.EA OnlusFamily meetings and Scientific Workshops • Family Meeting Southern Area (Cosenza, 23 October 2010) • Family Meeting Northern Area (Milan, 6 November 2010) • National Family Meeting (Rome, 26 – 27 March 2011) • International Workshop on Alternating Hemiplegia (Genoa, 11 November 2011) • National Assembly (Rome, 19 – 20 April 2012

  7. A.I.S.EA OnlusFamily meetings and Scientific Workshops International Workshop on AHC Genoa, 11 November 2011

  8. A.I.S.EA OnlusFundraising Fundraising • 5xThousand (people can choose the non-profit association to donate the 5x1000 of their taxes to) • Favors for Weddings, Baptisms and First Communions

  9. A.I.S.EA OnlusFundraising Fundraising by the families and the friends In all the regions of Italy

  10. A.I.S.EA OnlusQuality of Life: improve the assistance • Publication of the White Book for understanding and managing Alternating Hemiplegia (in Italian, in English and in Spanish by the association AESHA) • Publication of the National Guidelines for the assistance of the persons affected by AHC and of their families

  11. A.I.S.EA OnlusQuality of Life: White Book on AHC A practical guide to understand and manage this rare disease Written by the members of the Scientific Committee in collaboration with the families of A.I.S.EA Adapted and translated by the Spanish association in collaboration with their doctors

  12. A.I.S.EA OnlusQuality of Life: White Book on AHC • Guidelines for the assistance to the persons affected by Alternating Hemiplegia and their families • (diagnosis, treatment, management of the attacks, rehabilitation, health and social services, school attendance, adult life) • Published by • Italian Ministry of Health • National Institute of Health • A.I.S.EA Onlus http://www.snlg-iss.it/en_news_gl_alternating_hemiplegia

  13. A.I.S.EA OnlusQuality of Life: autonomy and assistance A.I.S.EA funding program 2010 - 2011for the assistance and the autonomy • A Regulation defined by the Board of Directors and approved by the Assembly of the Members of A.I.S.EA • Individual projects presented by the families and evaluated by the Board of Directors of A.I.S.EA • Financial contributions for the personal assistance (sanitary, educational, rehabilitation, psychotherapeutic) and for material aids (mobility and vision, computers) • 42 funded projects in two years (participation to summer camps, travelling abroad, sports courses, acting classes, personal computers at home for learning and educational activities…)

  14. A.I.S.EA OnlusQuality of Life: a service of social assistance • Surveys to obtain a better description of the real life problems and needs • Info point and counseling for the families • Support to the definition of an individual educative and life project for each AHC child, and to its realization through the involvement of the local health and social services (a sort of case-manager to support the multidisciplinary approach to the care for this complex and rare disease) • By a professional social worker

  15. A.I.S.EA OnlusResearch The other main goal of A.I.S.EA is to develop the research on AHC by • actively involving all the patients, the clinicians and the researchers interested in AHC • funding research projects • Equallyproviding clinical data and DNA samples of as many validated cases as possible to all research groups, Italian and international • organizing and supporting the participation of the Italian families in clinical studies (examinations, questionnaires, …)

  16. A.I.S.EA OnlusResearch • Funding and support of several research projects, both clinical and genetic • Participation to the EU funded Project nEUroped www.neuroped.eu and active member of ENRAH European Network for the Research on Alternating Hemiplegia www.enrah.net • Design, funding and coordination of the project I.B.AHC Biobank and Clinical Registry for AHC(2004 - 2011)www.ibahc.org

  17. A.I.S.EA OnlusResearch Some of the most recent research projects supported by A.I.S.EA • Study of the Blink Reflex in AHC (Rome, Child Hospital Bambino Gesù) • Study of the Cerebral Hematic Flux with Transcranial Doppler Sonography • Genome Analysis with CGH-Array (Rome, CSS-Mendel Institute) • Exome sequencing (Rome, Policlinic Gemelli, Laboratory of Clinical Genetics, in collaboration with the other centers of the European Genetic Consortium)

  18. A.I.S.EA OnlusSupport to the Research • I.B.AHC – Biobank and Clinical Registry for Alternating Hemiplegia http://en.ibahc.orgis a project coordinated and funded by A.I.S.EA Onlus, in collaboration with its Scientific Committee and with the Biomolecular Laboratory of the Scientific Institute “E. Medea” • I.B.AHCis composed of two main repositories, the Clinical Registry and the Biological Bank (Biobank), designed to collect, organize, keep and share both the clinical data and the biological samples (DNA, RNA and Cellular Lines) of the patients affected by AHC. 

  19. A.I.S.EA OnlusSupport to the Research: the I.B.AHC project Architecture

  20. A.I.S.EA OnlusSupport to the Research: the I.B.AHC project 45 validated cases currently available, complete with their clinical data and biological samples. The availability is kept updated on the I.B.AHC public website www.ibahc.org

  21. A.I.S.EA OnlusSupport to the Research: the I.B.AHC project The patients are referred only by their anonymous code CIDs. The treating physicians can login and enter the data of their patients; they can create several follow-up observations for the same category of data (for example, plegic attacks), at different ages of the patient.

  22. A.I.S.EA OnlusSupport to the Research: the I.B.AHC project • In the I.B.AHC on-line Clinical Registry, several types of users provide and share their own part of information : treating physicians, researchers, validators (Data Managers), patients • Also the contribution of the patients is important for a better knowledge of the disease • The Study of the Paroxysmal Episodes in AHC, in the area of the Quality of Life, allows the patients to provide their own part of information, fully integrated with all the other parts and sharable with all the other users

  23. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC • The purpose of the Study is to identify the clinical features, the trigger factors, the better management and support strategies and the up-to-date acute treatment of AHC paroxysmal episodes that severely influence the functioning and the quality of life of AHC patients and of their families, taking advantage of the I.B.AHC online Clinical Registry as a tool to support the data collection, validation and analysis.

  24. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC Expected Short-Mid Term Results: • to better document paroxysmal episodes in AHC • to provide practical suggestions about how to manage the episodes and to ameliorate the quality of life in AHC, as regards to treatment, psychological support, supportive and educational therapy, based on the actual patients’ needs.

  25. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC Expected Mid-Long Term Results: • When also the clinical data are available, to identify how severity and frequency of the paroxysmal episodes may correlate with long-term outcome and chronic disabilities. • to develop and implement the use of an online Registry, as a strategic tool to help • the researchers to investigate a rare disease like AHC, • the health and social operators to improve the care to the patients, • the physicians to improve the diagnosis and the treatment.

  26. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC The data can be provided either by entering them directly in the on-line I.B.AHC Clinical Registry or by filling a questionnaire (WORD and Excel formats) One of the webforms to enter the data in the on-line I.B.AHC Clinical Registry The paper form to fill with the data and send to A.I.S.EA

  27. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC Outcomes Alberto’s crises during May 2011 Alberto’s crises during May 2012

  28. A.I.S.EA OnlusStudy of the Paroxysmal Episodes in AHC Other information • The Study is sponsored and coordinated by A.I.S.EA; the authors are a group of neurologists and parents • The official languages of the Study are Italian, English, French (thanks to the contribution of AFHA) and Spanish (thanks to the contribution of AESHA • The French and Spanish associations are in charge of the recruitment and the support to their families • Currently, the following families applied to the Study: 16 in Italy; 12 in France; 3 in UK; 3 in Spain; one in Colombia; one in Iceland; one in Ireland; one in Germany/Poland • By the end of the year, the data collection and validation will be completed ; after that the analysis of the data will start

  29. Support to the International Collaborative Research • The Study about the Paroxysmal Episodes in AHC is the first example of collaboration of different patient associations in the definition and support to a study on AHC • All the patient associations, in Europe and America, continue to work together with the aim to create a stronger international alliance with the objectives to • Raise the awareness on the disease • Raise funds for the research • Develop and support the international collaborative research for the finding of an effective treatment

  30. How patients can support the research Public Network Portal (dissemination of information, coordination, inventory of resources and research projects) Networking IDs + Common Data + Link Coding Hub (unique IDs generation) CID* + Biological Samples CID* + Clinical Data CID* + Biological Samples CID* + Biological Samples CID* + Clinical Data CID* + Clinical Data

  31. Support to the International Collaborative Research The patients can really make the difference in the development of the research of the causes of AHC and of a better care, by supporting the physicians and the researchers in their collaborating efforts, by providing a sufficient number of cases to study, and by contributing with their own practical and specific knowledge of the disease. With the hope to go on working with you all for the development of the international research on AHC, thank you very much for your kind attention and greetings from all the Italian AHC families A.I.S.EA Onlus Italian Association for Alternating Hemiplegia www.aisea.org www.ibahc.org

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