Ignite Creation Date:
2024-05-06 @ 6:23 PM
Last Modification Date:
2024-10-26 @ 2:47 PM
Study NCT ID:
NCT05645250
Status:
RECRUITING
Last Update Posted:
2023-09-08
First Post:
2022-12-01
Brief Title:
Feasibility of a Newborn Screening for Spinal Muscular Atrophy SMA in France DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine
Sponsor:
University Hospital Strasbourg France
Organization:
University Hospital Strasbourg France
Study Overview
Official Title:
Feasibility of a Newborn Screening for Spinal Muscular Atrophy SMA in France DEPISMA Prefigurator Project in Grand Est and Nouvelle Aquitaine
Status:
RECRUITING
Status Verified Date:
2023-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
DEPISMA
Brief Summary:
Spinal muscular atrophy SMA is a genetic disease of the nervous system that affects about 1 in 700012 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 AGBiogen
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
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 AGBiogen
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None