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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
Italian Patient Association for Alternating Hemiplegia
www.aisea.org
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
A.I.S.EA Onlus
The 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
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A.I.S.EA Onlus
Organization
• 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)
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Two 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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Ordinary 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
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Family meetings and Scientific Workshops

Family Meeting Southern Area (Cosenza, 23 October 2010)
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Family Meeting Northern Area (Milan, 6 November 2010)
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National Family Meeting (Rome, 26 – 27 March 2011)
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International Workshop on Alternating Hemiplegia
(Genoa, 11 November 2011)
National Assembly (Rome, 19 – 20 April 2012
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Family meetings and Scientific Workshops
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
International Workshop on AHC
Genoa, 11 November 2011
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A.I.S.EA Onlus
Fundraising
Fundraising
• 5xThousand (people
can choose the nonprofit association to
donate the 5x1000
of their taxes to)
• Favors for Weddings,
Baptisms and First
Communions
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Fundraising
Fundraising by the families and the friends
In all the regions of Italy
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Quality 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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Quality 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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
Adapted and translated by the Spanish association in collaboration
with their doctors
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A.I.S.EA Onlus
Quality 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
1. Italian Ministry of Health
2. National Institute of Health
3. A.I.S.EA Onlus
http://www.snlg-iss.it/en_news_gl_alternating_hemiplegia
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Quality of Life: autonomy and assistance
A.I.S.EA funding program 2010 - 2011
for 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…)
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Quality 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
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Research
The other main goal of A.I.S.EA is to develop the
research on AHC by

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
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, …)
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Research

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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
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Research
Some of the most recent research projects
supported by A.I.S.EA
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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)
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Support 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.
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San Francisco, 29 – 30 June 2012
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Support to the Research: the I.B.AHC project
Architecture
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San Francisco, 29 – 30 June 2012
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Support 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
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Support 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.
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San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Support 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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Study 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.
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Study 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.
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Study 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.
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Study 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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
The paper form to fill with the
data and send to A.I.S.EA
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A.I.S.EA Onlus
Study of the Paroxysmal Episodes in AHC
Outcomes
CID
XIT0002
Date
Type of crisis
10/05/2011 TONIC/DYSTONIC ATTACK
Note to Type
Start
ofTimeEnd
Crisis Time Trigger End of crisis
Drug used Quantity
to stop the ongoing crisis
16:05
16:15 Physical stress
Spontaneously,
NO without sleep
Alberto’s crises during May 2011
CID
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
XIT0002
Date
Type of crisis
01/05/2012 LEFT HEMIPLEGIC ATTACK
01/05/2012 BILATERAL/FULL ATTACK
01/05/2012 RIGHT HEMIPLEGIC ATTACK
01/05/2012 BILATERAL/FULL ATTACK
01/05/2012 RIGHT HEMIPLEGIC ATTACK
01/05/2012 RIGHT HEMIPLEGIC ATTACK
07/05/2012 LEFT HEMIPLEGIC ATTACK
07/05/2012 BILATERAL/FULL ATTACK
07/05/2012 RIGHT HEMIPLEGIC ATTACK
07/05/2012 TONIC/DYSTONIC ATTACK
12/05/2012 LEFT HEMIPLEGIC ATTACK
12/05/2012 BILATERAL/FULL ATTACK
12/05/2012 RIGHT HEMIPLEGIC ATTACK
17/05/2012 LEFT HEMIPLEGIC ATTACK
17/05/2012 BILATERAL/FULL ATTACK
17/05/2012 RIGHT HEMIPLEGIC ATTACK
26/05/2012 LEFT HEMIPLEGIC ATTACK
26/05/2012 BILATERAL/FULL ATTACK
26/05/2012 RIGHT HEMIPLEGIC ATTACK
26/05/2012 TONIC/DYSTONIC ATTACK
Note to Type
Start
ofTimeEnd
Crisis Time Trigger End of crisis
Drug used Quantity
to stop the o
11:45
12:00 Don't knowEvolution
/ OTHER into
NO another type of cri
12:00
14:00 Evolution from
Drug aadministration
previous
Diazepam
crisis(Valium)
10
14:15
15:15 Evolution from
Evolution
a previous
into
NO another
crisis type of cri
15:15
16:00 Evolution from
With aspontaneous
previous
NO crisis
sleep
16:15
19:00 Evolution from
Spontaneously,
a previous
NO crisis
without sleep
20:30
21:30 Physical stress
With spontaneous
Diazepam
sleep
(Valium)1
08:45
11:00 Emotional Evolution
stress
into
NO another type of cri
11:00
15:00 Evolution from
With aspontaneous
previous
NO crisis
sleep
15:10
18:30 Evolution from
With aspontaneous
previous
NO crisis
sleep
associato a ttacco
15:15
hemi dx16:30 Don't knowSpontaneously,
/ OTHER OTHERwithout
DRUG sleep
1000
11:15
11:45 Emotional Evolution
stress
into
NO another type of cri
11:40
16:00 Evolution from
With aspontaneous
previous
Diazepam
crisis
sleep
(Valium)
10
16:20
19:00 Evolution from
Spontaneously,
a previous
NO crisis
without sleep
15:30
16:15 Emotional Evolution
stress
into
NO another type of cri
16:15
17:30 Evolution from
Spontaneously,
a previous
Diazepam
crisis
without
(Valium)
sleep5
17:30
19:00 Evolution from
Spontaneously,
a previous
NO crisis
without sleep
11:00
11:45 Emotional Evolution
stress
into
NO another type of cri
11:45
15:30 Evolution from
Drug aadministration
previous
Diazepam
crisis(Valium)
10
15:40
18:00 Evolution from
With aspontaneous
previous
NO crisis
sleep
associate a crisi15:45
hemi dx 16:45 OTHER TRIGGERS
Spontaneously,
OTHERwithout
DRUG sleep
1000
Alberto’s crises during May 2012
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
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A.I.S.EA Onlus
Study 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
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San Francisco, 29 – 30 June 2012
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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
1. Raise the awareness on the disease
2. Raise funds for the research
3. Develop and support the international collaborative research
for the finding of an effective treatment
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San Francisco, 29 – 30 June 2012
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How patients can support the research
Networking
Public Network Portal
(dissemination of information,
coordination, inventory of resources
and research projects)
IDs + Common Data +
Link
CID*
+
CID* Biological
+ Samples
Clinical
Data
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
CID*
+
CID* Biological
+ Samples
Clinical
Data
Coding Hub
(unique IDs generation)
CID*
+
CID* Biological
+ Samples
Clinical
Data
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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
AHCF Family Meeting
San Francisco, 29 – 30 June 2012
www.aisea.org
www.ibahc.org
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