Clinical trial NCT05645250: Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand-Est and Nouvelle-Aquitaine
Official title: Feasibility of a Newborn Screening for Spinal Muscular Atrophy (SMA) in France: DEPISMA Prefigurator Project in Grand Est and Nouvelle Aquitaine
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Feasibility of Neonatal Screening for Spinal Amyotrophy
Lead sponsor: University Hospital, Strasbourg, France
Sponsor class: OTHER
First posted: 2022-12-09
Enrollment: 220000
Sex: ALL
Minimum age (years): 1
Maximum age (years): 5
Standard ages: CHILD
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Participation in the study will be offered to the parents of all newborns meeting the inclusion criteria, along with the standard national newborn screening program

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.


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

Primary outcomes:
measure: Completeness of screening for spinal muscular atrophy
timeFrame: 2 years
measure: Time frames calculation
timeFrame: 2 years
Secondary outcomes:
measure: Evaluation of screening costs
timeFrame: 2 years
Other outcomes:
Locations:
city: Colmar
country: France
facility: Ch de Colmar - Hôpital Louis Pasteur
state: Alsace
city: Colmar
country: France
facility: Hôpital Albert Schweitzer - Clinique Du Diaconat de Colmar
state: Alsace
city: Haguenau
country: France
facility: Ch de Haguenau
state: Alsace
city: Mulhouse
country: France
facility: Clinique Diaconat Fonderie de Mulhouse
state: Alsace
city: Mulhouse
country: France
facility: Hôpital Emile Muller
state: Alsace
city: Saverne
country: France
facility: Ch Ste Catherine
state: Alsace
city: Schiltigheim
country: France
facility: Cmco Chru de Strasbourg
state: Alsace
city: Strasbourg
country: France
facility: Clinique Rhena
state: Alsace
city: Strasbourg
country: France
facility: Clinique Ste Anne
state: Alsace
city: Sélestat
country: France
facility: Ch de Selestat
state: Alsace
city: Wissembourg
country: France
facility: Chic de La Lauter
state: Alsace
city: Bezannes
country: France
facility: POLYCLINIQUE BEZANNES/Courlancy
state: Champagne Ardennes
city: Charleville-Mézières
country: France
facility: CHIna HOPITAL MANCHESTER
state: Champagne Ardennes
city: Chaumont
country: France
facility: Ch de Chaumont
state: Champagne Ardennes
city: Châlons-en-Champagne
country: France
facility: Ch de Chalons En Champagne
state: Champagne Ardennes
city: Reims
country: France
facility: Chu Reims Höpital Maison Blanche
state: Champagne Ardennes
city: Romilly-sur-Seine
country: France
facility: Groupement Hospitalier Aube Marne
state: Champagne Ardennes
city: Saint-Dizier
country: France
facility: Ch Genevieve Anthonioz de Gaulle
state: Champagne Ardennes
city: Troyes
country: France
facility: Ch Troyes
state: Champagne Ardennes
city: Épernay
country: France
facility: Ch Epernay
state: Champagne Ardennes
city: Epinal
country: France
facility: Ch Emile Durckheim
state: Lorraine
city: Forbach
country: France
facility: Ch Marie Madeleine
state: Lorraine
city: Lunéville
country: France
facility: Ch de Luneville
state: Lorraine
city: Metz
country: France
facility: Clinique Claude Bernard
state: Lorraine
city: Mont-Saint-Martin
country: France
facility: Ch de Mont St Martin
state: Lorraine
city: Nancy
country: France
facility: Chru Nancy-Maternite
state: Lorraine
city: Nancy
country: France
facility: Polyclinique Majorelle de Nancy
state: Lorraine
city: Neufchâteau
country: France
facility: Chic L'Ouest Vosgien Site Neufchateau
state: Lorraine
city: Remiremont
country: France
facility: Ch de Remiremont
state: Lorraine
city: Saint-Avold
country: France
facility: Clinique St Nabor
state: Lorraine
city: Saint-Dié-des-Vosges
country: France
facility: Ch St Charles
state: Lorraine
city: Saint-Mihiel
country: France
facility: Ch de Verdun St Mihiel Hôpitalst Nicolas
state: Lorraine
city: Sarrebourg
country: France
facility: Ch Saint Nicolas
state: Lorraine
city: Sarreguemines
country: France
facility: Ch de Sarreguemines Hôpital Robert Pax
state: Lorraine
city: Thionville
country: France
facility: Chr Metz Thionville Hôpital de Mercy
state: Lorraine
city: Thionville
country: France
facility: Hôpital Bel Air - Chr Metz -Thionville
state: Lorraine
city: Toul
country: France
facility: Ch St Charles
state: Lorraine
city: Briey
country: France
facility: Ch de Briey- Hôpital Maillot
city: Strasbourg
country: France
facility: Vincent LAUGEL
Study officials:
affiliation: Hôpitaux Universitaires de Strasbourg
name: Vincent LAUGEL
role: PRINCIPAL_INVESTIGATOR
References: