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

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
  whos 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_hemi
plegia
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
• Equally providing 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.org is 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.AHC is 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
Albertos crises during May 2011
Albertos 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

• Networking

Public Network Portal (dissemination of
information, coordination, inventory of resources
and research projects)
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