Roche has presented positive two-year results from an ongoing study of its spinal muscular atrophy (SMA) treatment Evrysdi (risdiplam) in children who were treated pre-symptomatically as infants before six weeks of age.
Affecting approximately one in every 10,000 babies, SMA is a severe and progressive neuromuscular disease characterised by insufficient levels of the SMN protein.
Depending on the form of SMA, patients’ physical strength and their ability to walk, eat or breathe can be considerably diminished or lost.
Roche’s Evrysdi, which can be administered at home in liquid form by mouth or by feeding tube, is designed to treat the disease by increasing and sustaining the production of SMN protein in the central nervous system and peripheral tissues.
Results from the RAINBOWFISH study presented at this year’s World Muscle Society Congress showed that 100% of Evrysdi-treated patients who had three or more SMN2 copies achieved standing and walking milestones, with most achieving these within World Health Organization windows of typical child development. Among those with two SMN2 copies, 100% could sit and 60% could stand and walk independently after two years of treatment.
Additionally, all patients were able to swallow and feed orally after two years of treatment, with none requiring permanent ventilation, and children in the study showed cognitive skills typical of those without SMA.
Roche’s chief medical officer and head of global product development, Levi Garraway, said the two-year findings “confirm the potential of early intervention with Evrysdi to meaningfully improve the lives of children with SMA”.
“Working in tandem with newborn screening programmes, Evrysdi is the only non-invasive SMA treatment that can be administered during a child’s first hours of life,” he said.
Roche leads the clinical development of Evrysdi, which is already approved in more than 100 countries, as part of a collaboration with the SMA Foundation and PTC Therapeutics.
The latest results for the therapy come four months after the company presented five-year data for Evrysdi at the Cure SMA Research and Clinical Care Meeting.
After five years of treatment with Evrysdi, 91% of children in the open-label extension of the FIREFISH study were alive, 81% were alive without permanent ventilation and 59% were able to sit without support for at least 30 seconds.