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

A.I.S.EA OnlusSupport to the families and support to the research

International Patient Network

Rosaria VavassoriPresident 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 OnlusItalian Patient Association for Alternating Hemiplegia

www.aisea.org

AHCF Family Meeting San Francisco, 29 – 30 June 2012

http://www.ibahc.org/

http://www.aisea.org/

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

AHCF Family Meeting San Francisco, 29 – 30 June 2012 2

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)


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

A better quality of life: health and social assistance, autonomy, social integration

Short-medium term goal

Both these goals are important for the families and are

pursued at the same time

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

• FundraisingAHCF Family Meeting San Francisco, 29 – 30 June 2012 5

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


A.I.S.EA OnlusFamily meetings and Scientific Workshops


International Workshop on AHCGenoa, 11 November 2011

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

A.I.S.EA OnlusFundraising


Fundraising by the families and the friendsIn all the regions of Italy

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


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

A.I.S.EA OnlusQuality of Life: White Book on AHC


http://www.snlg-iss.it/en_news_gl_alternating_hemiplegia

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

1. Italian Ministry of Health2. National Institute of Health3. A.I.S.EA Onlus

http://www.snlg-iss.it/en_news_gl_alternating_hemiplegia

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…)


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 workerAHCF Family Meeting San Francisco, 29 – 30 June 2012 14

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, …)



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


http://www.neuroped.eu/

http://www.enrah.net/



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)


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.


http://en.ibahc.org/

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

project


Architecture


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 websitewww.ibahc.org




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.


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


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.



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.



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.




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



CID Date Type of crisis Note to Type of CrisisStart TimeEnd Time Trigger End of crisisDrug used to stop the ongoing crisisQuantityXIT0002 10/05/2011 TONIC/DYSTONIC ATTACK 16:05 16:15 Physical stress Spontaneously, without sleep NO

Outcomes

Alberto’s crises during May 2011

Alberto’s crises during May 2012

CID Date Type of crisis Note to Type of CrisisStart TimeEnd Time Trigger End of crisisDrug used to stop the ongoing crisisQuantityXIT0002 01/05/2012 LEFT HEMIPLEGIC ATTACK 11:45 12:00 Don't know / OTHER Evolution into another type of crisis NO XIT0002 01/05/2012 BILATERAL/FULL ATTACK 12:00 14:00 Evolution from a previous crisis Drug administration Diazepam (Valium) 10XIT0002 01/05/2012 RIGHT HEMIPLEGIC ATTACK 14:15 15:15 Evolution from a previous crisis Evolution into another type of crisis NO XIT0002 01/05/2012 BILATERAL/FULL ATTACK 15:15 16:00 Evolution from a previous crisis With spontaneous sleep NO XIT0002 01/05/2012 RIGHT HEMIPLEGIC ATTACK 16:15 19:00 Evolution from a previous crisis Spontaneously, without sleep NO XIT0002 01/05/2012 RIGHT HEMIPLEGIC ATTACK 20:30 21:30 Physical stress With spontaneous sleep Diazepam (Valium) 1XIT0002 07/05/2012 LEFT HEMIPLEGIC ATTACK 08:45 11:00 Emotional stress Evolution into another type of crisis NO XIT0002 07/05/2012 BILATERAL/FULL ATTACK 11:00 15:00 Evolution from a previous crisis With spontaneous sleep NO XIT0002 07/05/2012 RIGHT HEMIPLEGIC ATTACK 15:10 18:30 Evolution from a previous crisis With spontaneous sleep NO XIT0002 07/05/2012 TONIC/DYSTONIC ATTACK associato a ttacco hemi dx 15:15 16:30 Don't know / OTHER Spontaneously, without sleep OTHER DRUG 1000XIT0002 12/05/2012 LEFT HEMIPLEGIC ATTACK 11:15 11:45 Emotional stress Evolution into another type of crisis NO XIT0002 12/05/2012 BILATERAL/FULL ATTACK 11:40 16:00 Evolution from a previous crisis With spontaneous sleep Diazepam (Valium) 10XIT0002 12/05/2012 RIGHT HEMIPLEGIC ATTACK 16:20 19:00 Evolution from a previous crisis Spontaneously, without sleep NO XIT0002 17/05/2012 LEFT HEMIPLEGIC ATTACK 15:30 16:15 Emotional stress Evolution into another type of crisis NO XIT0002 17/05/2012 BILATERAL/FULL ATTACK 16:15 17:30 Evolution from a previous crisis Spontaneously, without sleep Diazepam (Valium) 5XIT0002 17/05/2012 RIGHT HEMIPLEGIC ATTACK 17:30 19:00 Evolution from a previous crisis Spontaneously, without sleep NO XIT0002 26/05/2012 LEFT HEMIPLEGIC ATTACK 11:00 11:45 Emotional stress Evolution into another type of crisis NO XIT0002 26/05/2012 BILATERAL/FULL ATTACK 11:45 15:30 Evolution from a previous crisis Drug administration Diazepam (Valium) 10XIT0002 26/05/2012 RIGHT HEMIPLEGIC ATTACK 15:40 18:00 Evolution from a previous crisis With spontaneous sleep NO XIT0002 26/05/2012 TONIC/DYSTONIC ATTACK associate a crisi hemi dx 15:45 16:45 OTHER TRIGGERS Spontaneously, without sleep OTHER DRUG 1000


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


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 to1. Raise the awareness on the disease2. Raise funds for the research3. Develop and support the international collaborative research

for the finding of an effective treatment


How patients can support the research

Networking


Public Network Portal(dissemination of information,

coordination, inventory of resources and research projects)

Coding Hub(unique IDs generation)

CID*+

ClinicalData

CID*+

BiologicalSamples

CID*+

ClinicalData

CID*+

BiologicalSamples

CID*+

ClinicalData

CID*+

BiologicalSamples

IDs + Common Data + Link

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 andgreetings from all the Italian AHC families

A.I.S.EA OnlusItalian Association for Alternating Hemiplegia

www.aisea.org www.ibahc.org


http://www.aisea.org/


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

Documents

national family meeting

ea italian association

familiesahcf family

ea onlussupport

ea onlusfamily meetings

nonprofit association

ea onlustwo main goals

ahc coordinator