Clinical Trial: Register of Patients With Prader-Willi Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Implementation of a National Register of Children and Adults Presenting Prader-Willi Syndrome

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


Detailed Summary:
Sponsor: University Hospital, Toulouse

Current Primary Outcome: collect data about patients [ Time Frame: Baseline ]

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


Original Primary Outcome: Same as current

Current Secondary Outcome: collect data about patients [ Time Frame: During 10 years at least ]

modalities of follow-up and clinical management and a questionnaire to evaluate quality of life of the family and social data


Original Secondary Outcome: Same as current

Information By: University Hospital, Toulouse

Dates:
Date Received: July 7, 2016
Date Started: March 2009
Date Completion: December 2017
Last Updated: July 12, 2016
Last Verified: July 2016