Data from the NURTURE study presented at the American Academy of Neurology’s conference, showed that treatment of infantile-onset SMA (most likely to develop SMA Type 1 or 2) before the onset of symptoms resulted in motor milestone achievements more consistent with normal motor development.
NURTURE is an open-label study of infants up to six weeks of age at the time of first dose, who were genetically diagnosed with SMA (which means they had the SMN1 mutation) and had not experienced any symptoms by the time of first dose. Participants included 15 infants with two copies of the SMN2 gene, who are most likely to develop a fatal, early-onset form of SMA (Type 1), and 10 infants with three copies of the SMN2 gene, who are most likely to develop SMA Type 2 or 3.
Data presented in October 2018 demonstrated unprecedented efficacy in treating patients pre-symptomatically. In that analysis, all NURTURE study participants were alive and did not require permanent ventilation, in contrast to untreated patients (natural history of SMA). Study participants achieved motor milestones with 100% sitting independently and 88 % able to walk. All NURTURE study participants were 14 months or older at the time of the analysis and no new safety concerns were identified.
The data presented on Monday showed all infants were able to sit without support, 88% could walk with assistance and 77% could walk without assistance. All infants were alive, none required permanent ventilation and no new safety concerns were identified. In the natural history of SMA, individuals are unable to sit without support (SMA Type 1) or walk (SMA Type 1 or 2) and often require respiratory and nutritional interventions in order to live past the age of two (SMA Type 1).