Spinal muscular atrophies are characterized by muscle weakness and hypotonia due to the degeneration and loss of motor neurons. SMA type II affects one person in 70 000. Its onset is between 6 and 18 months of age. The children have difficulty in sitting alone and cannot stand or walk. The muscle weakness affects mainly the muscles of the legs and the trunk.
SMA Europe
- Reference laboratory: Institute of Myology
This project includes for the first time 9 large neuromuscular centers in Europe that are implicated in the development and validation of functional measurement tests for spinal muscular atrophy (SMA). The goal of this collaboration is to harmonize the evaluation measurements in view of a possible multicentric trial on SMA types II and III.
IONIS-CS3B study
- Reference laboratory: Institute of Myology
This phase 3, randomized, double-blind, sham-procedure controlled study aims at assessing the clinical efficacy and safety of ISIS 396443 administered intrathecally in patients with infantile-onset spinal muscular atrophy.
For more information: IONIS-CS3B study webpage
NatHis-SMA study
- Reference laboratory: Institute of Myology
NatHis-SMA is a prospective, longitudinal and interventional study of the natural history of patients with type 2 and 3 Spinal Muscular Atrophy (SMA). The purpose of this study is to characterize the disease course over 2 years and identify prognostic variables of the disease and biomarkers of SMA progression, as well as determine the best outcome measures for further theurapeutic approaches.
For further information: NatHis-SMA study webpage
Preclinical study for a gene therapy trial
- Reference laboratory: Institute of Myology, Généthon
The proof of principle of the efficacy of a gene therapy strategy based on the administration of an AAV (Adeno-Associated-Virus) vector carrying the sequence of the SMN1 gene was carried out in a murine model of SMA type I by Dr. Martine Barkats’ group (Institute of Myology-INSERM UMR 974 Paris-Domingues et al., Hum Mol Genet 2010). The preclinical studies are in progress in order to define the strategy for a future clinical trial.
For more information: the preclinical study for a gene therapy trial
Better understanding the disease mechanisms
- Reference Laboratory: I-Stem
As part of the study on the mechanisms of myotonic dystrophy using human embryonic stem cells (hES), I-Stem is also interested in infantile spinal amyotrophy. Pathological modelling studies of this disease, from iPS cells obtained by reprogramming adult cells derived from patients suffering from this disease, are in progress.
For information : better understanding the disease mechanisms
