Endocrine Abstracts

JOINT1640

Introduction: Since 2023, the French Reference Centre has developed a new tool for the national registry for children diagnosed with Prader-Willi Syndrome (PWS), based on the “old database” on Access® created in 2005 for children. This new registry was designed as a prospective follow-up of children from birth to 18 years. Physicians first filled the neonate medical sheet and collect signed informed consent from parents. After a multidisciplinary discussion of the neonate situation the patient is included in the data base after approval by the coordinator of the national centre for PWS. This procedure has been set-up after the first clinical trial with oxytocin (OXT) in neonates with PWS in 2017 and is now part of routine care. The procedure allows to have all newborns included in the registry and optimizes the access to compassionate use of OXT for neonates with PWS obtained in 2021 in France. In order to have the best chance to have complete and high quality data we chose to keep patients included in the “old data base” born since 2010 and not before.

Methods: The first step was to collect data from birth to 4 years on medical aspects comprising pregnancy, birth, development, diagnosis, comorbidities, treatments, clinical, radiological and biological results, socio-demographic and family characteristics, in the 408 patients born since 2010. The second step started in 2024 and aimed to add 4 visits to collect data until 18 years including a transition visit. This national registry aims to promote multidisciplinary analyses on current practices in the national network of the reference centre and to take decisions on training, research, treatment and finally improve the registry and patient follow up.

Results: From birth to 4 years, 1994 visits were recorded for 408 patients. Data were collected in 22 French expert centres of the reference centre. After 4 years, visits will be added in the same format at different age-ranges: 7-9 years, 11-13 years, 14-16 years and 16.5-18 years. Specific data linked to the patient’s age have been added, especially pubertal data from age 11 and the transition phase before adult follow-up from age 16.5.

Conclusion: This new registry including prospective follow-up of children will allow to improve and facilitate data collection from centres who followed children with PWS and to study the disease trajectories from birth to 18 years. It will also allow to document the effects of treatments in these trajectories.