The French registry of spinal muscular atrophy (SMA) is already producing encouraging results, according to a new report published in the journal Medical Sciences.
The registry was set up in 2020 with the aim to better understand the pathology of the disease and identify the best therapeutic strategies to improve the management of patients with SMA.
“The SMA registry is also intended to allow doctors and researchers who so wish to carry out specific analyzes from the data present in the registry,” the researchers wrote.
“It will also facilitate the setting up and running of clinical trials by providing research hypotheses, data on the centers’ recruitment capacities, on the feasibility, on the characteristics of the patients and on the local practices of the centers.”
The registry already enrolled 666 patients of the 1000 target population. Patients’ ages vary between 6 months and 76 years, and 357 are children and 309 are adults.
In terms of SMA type, 150 patients have the most severe SMA type 1 corresponding to 22% of all patients enrolled, and 278 (42%) have the milder SMA type 2. Around 35% of the patients in the registry have SMA type 3, and 4 patients (1%) have SMA type 4.
Read more about SMA classification
This distribution of SMA type represents what is reported in the literature, the authors said. A total of 59 patients died.
More than half of the patients in the registry (373) have received at least 1 specific SMA treatment, and 231 patients never received specific treatment.
“The national collection of data from the entire SMA population and the resulting analyzes will make it possible to obtain a better knowledge of this pathology, as well as to identify the best therapeutic strategies and consequently improve the management of sick,” the authors concluded.
Lemoine M, Gomez M, Grimaldi L, Urtizberea JA, Quijano-Roy S. The SMA France national registry: already encouraging results. Med Sci (Paris). 2021;37(1):25-29. doi:10.1051/medsci/2021187