Positive opinion from the HAS on the national expansion of newborn screening for SMA

AFM-Téléthon is delighted with the positive opinion issued by the French National Authority for Health (HAS) concerning the extension of neonatal screening for spinal muscular atrophy (SMA) to the entire French territory. This significant step forward is based in particular on the results of the Depisma pilot programme, launched in early 2023 by AFM-Téléthon in collaboration with the Strasbourg and Bordeaux teaching hospitals and the ARS.

A change of destiny for newborn babies

Infantile spinal muscular atrophy is a rare and often fatal genetic disease that causes progressive muscle atrophy. Without treatment, 95% of children with the most severe form die before the age of two. Thanks to the innovative therapies available, it is now possible to treat babies effectively even before symptoms appear, thereby significantly improving their quality of life.

The success of the Depisma pilot programme

Depisma, implemented in 81 maternity units in the Grand Est and Nouvelle Aquitaine regions, under the impetus and with the financial support of the AFM-Téléthon, in collaboration with the University Hospitals of Strasbourg, the University Hospital Centre of Bordeaux, the Grand Est and Nouvelle Aquitaine Regional Health Agencies, and with the support of the FILNEMUS health network and the DGOS, as well as three pharmaceutical companies, has demonstrated the feasibility and effectiveness of large-scale genetic screening:

  • Demonstration that genetic screening is perfectly feasible on a large scale at a controlled cost: the organisation of the screening and family information circuit is smooth and efficient.
  • Perfect ‘social acceptance’ of genetic screening, with 98.5% of couples consenting: around 85,000 infants were screened over the period in 81 maternity units.
  • Effectiveness of the system for early treatment: Babies screened and eligible for treatment were treated at an average of 23 days. Updated data from DĂ©pisma showed that 8 babies were screened with confirmed diagnosis, there were no false positives, 5 were treated with gene therapy, 2 are being closely monitored because they have a moderate form of the disease, ineligible for treatment, and one case of very severe disease from birth died very quickly.

Call for urgent implementation throughout France

If this opinion is the first step towards changing the fate of babies born each year with this fatal disease, it must be rapidly implemented in all French maternity units.

Laurence Tiennot-Herment, President of the AFM-TĂ©lĂ©thon, insists: “Every day counts to prevent babies suffering from the most serious form of spinal muscular atrophy from continuing to die. France urgently needs to catch up and put an end to the failure to assist babies in danger that newborn babies are currently suffering in our country”.

The previous Minister for Health committed to generalising SMA screening at birth by the summer of 2025 at the latest. The AFM-Téléthon is therefore asking that this commitment be taken up by the future government and that all means be mobilised to reduce this delay as much as possible.

Systematic newborn screening for SMA is already carried out in many European countries, including Germany, Austria, Belgium and many others. France must now follow this example to save lives.