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Prader-Willi Syndrome (PWS) is a rare syndrome with a prevalence of 15 to 20 000 at birth. PWS represents a large fraction of mental retardation syndromes due to a genetic cause and the most frequent cause of genetic obesity. The majority of the patients are seen by paediatricians. This syndrome is responsible for severe physical, psychological and social impairments.
The diversity and the severity of the manifestations of this disease explain the requirement of multidisciplinary care which deserve specific evaluation. Today the follow-up and management of a great proportion of these patients are greatly insufficient if not absent.
Teams strongly lack information on the natural history of this severe disease and on the factors involved in its evolution and the outcome of these patients throughout life. The present project is to implement a register in the whole country for children and adult patients
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Data collection | Other | This register will follow the evolution of the clinical practices and their consequences in the health of the patients, in all regions of France in order to have a national register. for Children and adults. |
| Measure | Description | Time Frame |
|---|---|---|
| collect data about patients | Circumstances of diagnosis, genetic diagnosis, modalities of follow-up and clinical management and a questionnaire to evaluate quality of life of the family and social data | Baseline |
| Measure | Description | Time Frame |
|---|---|---|
| collect data about patients | modalities of follow-up and clinical management and a questionnaire to evaluate quality of life of the family and social data | During 10 years at least |
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Inclusion Criteria:
Exclusion Criteria:
-
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Patients will be included by the paediatric endocrinologists or the endocrinologists for adults of each region based on their own recruitment
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| TAUBER Maité, MD PhD | Contact | tauber.m@chu-toulouse.fr | ||
| MOLINAS Catherine, CRA | Contact | molinas.c@chu-toulouse.fr |
| Name | Affiliation | Role |
|---|---|---|
| Tauber Maité, MD | University Hospital, Toulouse | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital of Children | Recruiting | Toulouse | 31059 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31684997 | Result | Pacoricona Alfaro DL, Lemoine P, Ehlinger V, Molinas C, Diene G, Valette M, Pinto G, Coupaye M, Poitou-Bernert C, Thuilleaux D, Arnaud C, Tauber M. Causes of death in Prader-Willi syndrome: lessons from 11 years' experience of a national reference center. Orphanet J Rare Dis. 2019 Nov 4;14(1):238. doi: 10.1186/s13023-019-1214-2. |
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| ID | Term |
|---|---|
| D011218 | Prader-Willi Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D003625 | Data Collection |
| ID | Term |
|---|---|
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
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| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
| D000096803 | Imprinting Disorders |
| D009765 | Obesity |
| D050177 | Overweight |
| D044343 | Overnutrition |
| D009748 | Nutrition Disorders |
| D009750 | Nutritional and Metabolic Diseases |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |