Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine

Launched by UNIVERSITY HOSPITAL, STRASBOURG, FRANCE · Dec 1, 2022

Keywords

ClinConnect Summary

The DEPISMA Prefigurator Project is a study aimed at testing a new screening method for Spinal Muscular Atrophy (SMA) in newborns in two regions of France: Grand-Est and Nouvelle-Aquitaine. SMA is a serious genetic condition that affects the nervous system and can lead to severe health issues and even death in children. By screening newborns for SMA, doctors hope to identify the condition early, allowing for treatments that can significantly improve the quality of life for children affected by this disease. Currently, about 120 new cases of SMA are diagnosed in France each year, and early detection is crucial for the best possible outcomes.

To participate in this study, newborns must be born in the Grand-Est or Nouvelle-Aquitaine regions during the study period, and their parents or legal guardians must agree to the screening. The study is open to all genders. Parents can expect that if their child is screened, any necessary follow-up care will be organized based on existing healthcare guidelines. This project is designed to fit within the current healthcare system in France and aims to gather important information that could help expand newborn screening for SMA across the entire country in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • - Newborns born in the Grand-Est or Nouvelle Aquitaine regions during the study period
• • Parent(s) or legal guardian(s) who do not object to "conventional" newborn screening
• • Parent(s) or legal guardian(s) who give consent for newborn screening for SMA
• • Child with health coverage
• Exclusion Criteria:
• • Parent(s) under curators or guardianship

Trial Officials