French clinicians from the Filnemus network report the results of a prospective study aimed at measuring the predictive value of muscle action potential amplitude (CMAP) coupled with a motor score in infants with spinal muscular atrophy (SMA) destined to receive gene replacement therapy.
- 13 symptomatic infants followed at the Necker Enfants Malades University Hospital (Paris) and 12 in the rest of France were included in the study.
- A low CMAP at the median nerve level (< 0.5 mV) coupled with a poor CHOP-INTEND score were found to be correlated with non-acquisition of sitting at six months.
This biomarker could thus help pediatric SMA specialists to select infants with type 1 SMA who are most likely to benefit from gene therapy.
