The European Prader Willi syndrome research project

The European Prader Willi
syndrome research project
« How can patient organisations trigger
a EU funded rare disease project »
Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
At first : a daily challenging rare disease
A rare disease : Prader- Willi syndrome
Estimated prevalence: 1 out of 15 000 to 24 000 live birth, not so rare
First clinical description by Pr Prader, Labhart and Willi in Zurich in 1956. Genetic origin
identified in the 1980s: microdeletion chr 15, or uniparental disomy, translocation or imprinting
mutation. Non inherited in most cases.
Lack of diagnosis and care cause early death by respiratory failure, obesity,
or following prescription of non-adapted psychiatric drugs…
Diagnosis possible at birth, genetic test available, extreme complexity:
- severe muscle hypotonia at birth,
- metabolism, sleeping, breathing, growth, sexual development, body temperature, pain and
stress threshold are disturbed, due to hypothalamic dysfunction in the brain
Lifelong developmental and behavioural problems, learning disabilities :
- Children and adults need less calories than average, and do not feel satiety
- anxiety, lack of emotional control, temper tantrums, psychiatric and autistic-like problems…
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
The establishment of a community
bringing together families and
professionals
As soon as the genetic diagnosis became possible, isolated families
began to get together:
1981: PWSA UK,
1986, PWSA Sweden
1990: IPWSO : International PWS organisation:
One parent delegate and one professionnal delegate in almost all countries
1996 : Prader-Willi France .
Founding member of« Alliance Maladies Rares » in 2000, and of Eurordis
One of our missions : encourage research
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
Prader-Willi France
PWSA UK
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
Growth hormone treatment :
the odyssey of an orphan drug before
the orphan drug regulation
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1987 : first publication in Sweden (4 children), 1991-92 : in the USA,
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1997-98 randomised studies published in Sweden, Denmark (29
children) and the USA, Marketing Autorisation in Sweden.
2000 : European Marketing Autorisation,
April 2002 : MA and reimbursement in France,
Life expectancy and quality of life improves dramatically.
But families understand quickly that more research is needed on LT
effect of treatment, treatment of infants and adults,
Also identification of genes, satiety, behavioural problems, health
problems, social integration, early years and ageing….
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
before and after
growth hormone treatment
Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
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Further research needed:
How did Eurordis and IPWSO help?
• May
2001 : First European conference on rare diseases in Copenhagen
organised by Rare Diseases Denmark : « Toward a comprehensive
approach ». Bruno Hansen presents the draft FP VI : 2002-2006, which includes
a priority for rare diseases;
« You have 18 months to bring together scientists and write a project »
• June 2001 : IPWSO conference in Saint Paul USA : state of the art
– Research in Europe in fragmented, without a pluridisciplinary approach.
Basic researchers do not meet clinicians.
– Researchers in the US take all benefit from publications
– First exchanges: C. Nourissier (PWF) and Pr T. Holland (University of
Cambridge)
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
Putting together an application :
another great challenge!
March 2002: First scientists meeting in Paris organised by Prader-Willi
France, then weekly Email exchanges with scientists
Role of our associations:
- contacts established with 14 associations in Europe:
Austria, Belgium, Denmark, Finland, France, Germany, Ireland, Italy, the
Netherlands, Norway, Poland, Sweden, Switzerland and the UK
- exchange of knowledge of day to day problems living with the disease
- financial support for the consultant in Brussels by PWF and PWSA UK
Oct 16, 2003: EU network meeting in Paris before the 2nd European
conference on rare diseases
Nov 2003: application sent
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
Strengthening the network…
• Eurordiscare studies:
2004: access to care
2005: access to diagnosis
2007: access to services
• Scientists meetings
• Parents/ Professionals
conferences
Marseille october 2005:
The impact of research on daily life
Romania 24- 25 June 2007
Concentrate on the Positive Aspects of PWS…
Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
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New contacts in 2006
• contacts through IPWSO network with
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Romania
Czech Republic
Slovakia,
Slovenia
Bulgaria
Moldavia
Croatia
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
How did we succeed ?
• By bringing together basic and clinical
research, and parents associations
• Though at the end clinical research has been
very scarcely funded: only a data base
• We never got discouraged from 2001 to 2005
• Each National organisation committed itself to
support and participate to research studies in
its own country
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».
Project started Dec 1st 2005 for 3 years
Future challenges :
• Entering the data in a standardised way across
the EU
• Permanent funding of databases
• Pluridisciplinary projects linking basic and
clinical research
• Permanent funding of DNA and brain tissue
network
• Research on social aspects; schooling, social
integration, compensation of disabilities, rights
of patients with mental disabilities and
behavioural problems
• to improve their quality of life.
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Journées SPW : « l’impact des avancées de la recherche sur la vie au quotidien ».