As of 22 July 2024, the SMA France Registry had collected data from 1,259 people with spinal muscular atrophy (SMA) through 59 participating reference centres, with:
- the vast majority of patients presenting with a homozygous deletion of the SMN1 gene,
- a higher proportion of SMA type II (502 patients) and type III (469 patients),
- innovative treatment for 76.2% of those registered, mainly nusinersen (46.1%), followed by risdiplam (23.2%) and onasemnogene abeparvovec (9.2%), sometimes sequentially or in combination,
- with the main complications being respiratory support, enteral nutrition and spinal surgery,
- significantly higher survival rates in patients treated for SMA type I and II, with the emergence of new complications to monitor, such as neurocognitive developmental delays, hence the addition of a neurocognitive module to the Registry.
- the occurrence of thrombotic microangiopathy following gene therapy, which also led to the addition of a monitoring module to the Registry.
Further studies will enable comparisons between different treatments or between single and combination therapies. An extension of the registry is planned to collect presymptomatic data following the roll-out of neonatal screening for SMA since 1 September 2025.
