Feasibility of Neonatal Screening for Spinal Amyotrophy
Conditions
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.
Interventions
None listed
Sponsors
University Hospital, Strasbourg, France
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Days to 5 Days
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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). |
Countries
France
Contacts
Primary ContactVincent LAUGEL
Outcome results
None listed