New study finds risdiplam effective for infants with spinal muscular atrophy

The drug treatment risdiplam is effective for enhancing motor function in infants with spinal muscular atrophy (SMA), according to research in the New England Journal of Medicine.

The study, conducted by Boston Children’s Hospital, examined 41 participants in infancy at approximately one to seven months of age with Type 1 spinal muscular atrophy.

“We conducted an open-label study of risdiplam in infants with type 1 SMA who were 1 to 7 months of age at enrollment,” the study states.

“A total of 41 infants were enrolled. After 12 months of treatment, 12 infants (29%) were able to sit without support for at least 5 seconds, a milestone not attained in this disorder,” the study also states.

“The percentages of infants in whom the key secondary end points were met as compared with the upper boundary of confidence intervals from historical controls were 56% as compared with 17% for a CHOP-INTEND score of 40 or higher, 90% as compared with 17% for an increase of at least 4 points from baseline in the CHOP-INTEND score, 78% as compared with 12% for a HINE-2 motor-milestone response, and 85% as compared with 42% for survival without permanent ventilation (P<0.001 for all comparisons). "
Overall, the drug treatment risdiplam led to a higher rate of infants who met motor milestones and who demonstrated enhancements in motor function.

“Longer and larger trials are required to determine the long-term safety and efficacy of risdiplam in infants with type 1 SMA,” the study concluded.

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