Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine
- Conditions
- Feasibility of Neonatal Screening for Spinal Amyotrophy
- Registration Number
- NCT05645250
- Lead Sponsor
- University Hospital, Strasbourg, France
- Brief 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 220000
-
- 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
- Parent(s) under curators or guardianship
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Completeness of screening for spinal muscular atrophy 2 years The completeness of screening for spinal muscular atrophy will be measured by the ratio of the number of tests collected in our study to the number of births in the maternity units included in the study. This rate will also be complemented by the ratio of the number of tests collected in our study to the number of births recorded by the civil registry in the two study regions. These rates will be compared to the completeness rates observed in other European studies.
Time frames calculation 2 years The time required from birth to management in a multidisciplinary consultation meeting according to the existing procedure (videoconference or electronic discussion group) (=TRCP) and the time from birth to the effective start of treatment = (TTTT) will be calculated from the data collected in the Case Report Form (CRF) for positive cases. These times will be compared with the times observed in comparable programs worldwide. The time to effective treatment initiation will be compared to the 6-week postnatal target used in the pre-symptomatic clinical trials.
- Secondary Outcome Measures
Name Time Method Evaluation of screening costs 2 years The study will distinguish between costs related to screening and those related to the follow-up and evaluation of the pilot (cost related to the clinical research status). Within the costs related to screening, it will distinguish between fixed costs (which do not depend on the number of screenings) and variable costs (depending on the number of screenings).
Trial Locations
- Locations (38)
Ch St Charles
🇫🇷Toul, Lorraine, France
Vincent LAUGEL
🇫🇷Strasbourg, France
Ch Troyes
🇫🇷Troyes, Champagne Ardennes, France
Ch Epernay
🇫🇷Épernay, Champagne Ardennes, France
Hôpital Albert Schweitzer - Clinique Du Diaconat de Colmar
🇫🇷Colmar, Alsace, France
Chu Reims Höpital Maison Blanche
🇫🇷Reims, Champagne Ardennes, France
Ch de Luneville
🇫🇷Lunéville, Lorraine, France
Polyclinique Majorelle de Nancy
🇫🇷Nancy, Lorraine, France
Ch Emile Durckheim
🇫🇷Epinal, Lorraine, France
Clinique St Nabor
🇫🇷Saint-Avold, Lorraine, France
Ch de Mont St Martin
🇫🇷Mont-Saint-Martin, Lorraine, France
Ch de Briey- Hôpital Maillot
🇫🇷Briey, France
Ch Genevieve Anthonioz de Gaulle
🇫🇷Saint-Dizier, Champagne Ardennes, France
Ch Ste Catherine
🇫🇷Saverne, Alsace, France
POLYCLINIQUE BEZANNES/Courlancy
🇫🇷Bezannes, Champagne Ardennes, France
CHIna HOPITAL MANCHESTER
🇫🇷Charleville-Mézières, Champagne Ardennes, France
Ch de Chaumont
🇫🇷Chaumont, Champagne Ardennes, France
Groupement Hospitalier Aube Marne
🇫🇷Romilly-sur-Seine, Champagne Ardennes, France
Clinique Claude Bernard
🇫🇷Metz, Lorraine, France
Chru Nancy-Maternite
🇫🇷Nancy, Lorraine, France
Chr Metz Thionville Hôpital de Mercy
🇫🇷Thionville, Lorraine, France
Hôpital Bel Air - Chr Metz -Thionville
🇫🇷Thionville, Lorraine, France
Ch de Colmar - Hôpital Louis Pasteur
🇫🇷Colmar, Alsace, France
Ch de Haguenau
🇫🇷Haguenau, Alsace, France
Clinique Rhena
🇫🇷Strasbourg, Alsace, France
Clinique Diaconat Fonderie de Mulhouse
🇫🇷Mulhouse, Alsace, France
Cmco Chru de Strasbourg
🇫🇷Schiltigheim, Alsace, France
Ch de Selestat
🇫🇷Sélestat, Alsace, France
Hôpital Emile Muller
🇫🇷Mulhouse, Alsace, France
Clinique Ste Anne
🇫🇷Strasbourg, Alsace, France
Chic de La Lauter
🇫🇷Wissembourg, Alsace, France
Ch de Chalons En Champagne
🇫🇷Châlons-en-Champagne, Champagne Ardennes, France
Ch Marie Madeleine
🇫🇷Forbach, Lorraine, France
Chic L'Ouest Vosgien Site Neufchateau
🇫🇷Neufchâteau, Lorraine, France
Ch de Remiremont
🇫🇷Remiremont, Lorraine, France
Ch de Verdun St Mihiel Hôpitalst Nicolas
🇫🇷Saint-Mihiel, Lorraine, France
Ch de Sarreguemines Hôpital Robert Pax
🇫🇷Sarreguemines, Lorraine, France
Ch Saint Nicolas
🇫🇷Sarrebourg, Lorraine, France