Key clinical point: AT132 decreases ventilator dependence and may improve neuromuscular function in children with X-linked myotubular myopathy.
Major finding: All six patients who received the low dose and one of 10 patients who received the high dose achieved ventilator independence.
Study details: A randomized, delayed treatment–controlled phase 1/2 trial of AT132 in 23 patients with X-linked myotubular myopathy.
Disclosures: Audentes Therapeutics funded the study. Dr. Kuntz had no conflicts of interest.
Bönnemann CG et al. CNS-ICNA 2020, Abstract P.62.