Register of Patients With Prader-Willi Syndrome

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

Recruiting

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Key information

Conditions

Prader-Willi Syndrome Abnormalities, Multiple Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Imprinting Disorders Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutrition Disorders Nutritional and Metabolic Diseases Obesity Overnutrition Overweight

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital of Children

Toulouse, 31059, France

Location status: Recruiting

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

all subjects with a Prader-Willi Syndrome

Exclusion criteria

Treatment and study plan

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.

Primary outcomes

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

Secondary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

MOLINAS Catherine, CRA

CONTACT

[email protected]

TAUBER Maité, MD PhD

CONTACT

[email protected]

Sponsors and collaborators

Lead sponsor

University Hospital, Toulouse

Other

Registry information

Official study title

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

Important dates

Study start: 2009
Primary completion: 2025
Study completion: 2026
First posted: Jul 12, 2016
Registry last updated: Feb 20, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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