Register of Patients With Prader-Willi Syndrome
Implementation of a National Register of Children and Adults Presenting Prader-Willi Syndrome
1 other identifier
observational
500
1 country
1
Brief Summary
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
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2009
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 1, 2009
CompletedFirst Submitted
Initial submission to the registry
July 7, 2016
CompletedFirst Posted
Study publicly available on registry
July 12, 2016
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 1, 2025
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2026
ExpectedFebruary 20, 2024
February 1, 2024
16.8 years
July 7, 2016
February 16, 2024
Conditions
Outcome Measures
Primary Outcomes (1)
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
Secondary Outcomes (1)
collect data about patients
During 10 years at least
Interventions
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.
Eligibility Criteria
Patients will be included by the paediatric endocrinologists or the endocrinologists for adults of each region based on their own recruitment
You may qualify if:
- all subjects with a Prader-Willi Syndrome
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University Hospital of Children
Toulouse, 31059, France
Related Publications (1)
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.
PMID: 31684997RESULT
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Tauber Maité, MD
University Hospital, Toulouse
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 7, 2016
First Posted
July 12, 2016
Study Start
March 1, 2009
Primary Completion
December 1, 2025
Study Completion (Estimated)
December 1, 2026
Last Updated
February 20, 2024
Record last verified: 2024-02
Data Sharing
- IPD Sharing
- Will not share