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

NCT05645250 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 220000

Last updated 2023-09-08

No results posted yet for this study

Summary

Spinal muscular atrophy (SMA) is a genetic disease of the nervous system that affects about 1 in 7,0001.2 births and results in very high mortality for patients with the disease. There are about 120 new cases in France each year and an estimated total of 2500 patients. It is the leading cause of genetic mortality in children in France. Until 2017, no etiological treatment was available. Currently, three treatments have been approved and have authorizations in France. The current clinical developments in SMA show the importance of an early treatment for patients. 3. The identification of pre-symptomatic patients is therefore essential to improve the effectiveness of treatments on an individual level and to avoid any loss of chance, as well as to reduce the societal cost of disability for patients treated in post-symptomatic. Several countries in Europe and around the world have implemented regional pilot screening programs for the disease. The screening test is based on a molecular genetic analysis that has been performed for many years, and which is highly reliable; there is currently no biochemical marker that can be used.

The objective of our project is to demonstrate the feasibility of neonatal screening for spinal amyotrophy in two French regions before being able to propose to extend it to the whole of France. The management of all screened patients will be decided outside the pilot study, by the existing national multidisciplinary consultation meeting, according to the best available standards of care and will be based on the national network of neuromuscular disease reference centers The objective of the project is not the evaluation of the efficacy of treatments or neonatal screening: these objectives are being studied by existing or otherwise ongoing studies around the world.

This project has been set up to be in line with the existing structures in France that are responsible for neonatal screening (via the regional neonatal screening centers (CRDN) and the regional perinatal networks) and for the management of rare diseases (via the neuromuscular disease reference centers and their FILNEMUS network). This project is performed in collaboration with AFM Telethon, Directorate of Health Care Supply, Regional Health Agency (ARS), FILNEMUS network, Novartis Gene Therapies, Roche Pharma AG,Biogen.

Investigator wish, as far as possible, to bring this study closer to real life and to be able to generate as much information as possible that can be used directly to prefigure the potential generalization of this screening strategy to the entire national territory.

Conditions

  • Feasibility of Neonatal Screening for Spinal Amyotrophy

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Vincent LAUGEL · Hôpitaux Universitaires de Strasbourg

Eligibility

Min Age
1 Day
Max Age
5 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-12-13
Primary Completion
2024-12-12
Completion
2024-12-12

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05645250 on ClinicalTrials.gov