Rare Diseases Clinical Trials Update: Week 15, 2026

Published April 10, 2026 — 5 trials covered

By Victor Lafforgue, Founder of TrialsAlert

Endotype DIrected Treatment for OSA in Down Syndrome

This Phase 4 trial led by the University of Arizona is exploring new medication and oxygen therapies for obstructive sleep apnea (OSA) in people with Down syndrome. The study is important because many individuals with Down syndrome do not respond well to current sleep apnea treatments. By testing these new approaches in 200 participants aged 6 to 17 and adults, researchers hope to find better ways to improve sleep quality, thinking abilities, and overall quality of life. Results are expected after 12 months of treatment across five locations in the United States.

Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

This Phase 3 study sponsored by Sanofi focuses on babies with infantile-onset Pompe disease, a rare genetic condition that affects muscle strength and breathing. The trial is testing a new enzyme replacement therapy called avalglucosidase alfa to see if it can improve survival rates and reduce the need for invasive breathing support. Although not currently recruiting, the study involves multiple international sites and monitors participants for up to four years, offering hope for a treatment that could change the outlook for these infants.

A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy

This ongoing Phase 4 trial from Hoffmann-La Roche is investigating the use of risdiplam for children under two years old with spinal muscular atrophy (SMA) who have already received gene therapy. The goal is to see if risdiplam can further improve motor skills and overall health outcomes in these young patients. Recruiting is active in several countries, and treatment effects will be evaluated after 72 weeks, potentially providing a valuable additional treatment option for families affected by SMA.

A Study of Risdiplam in Infants With Genetically Diagnosed and Presymptomatic Spinal Muscular Atrophy

This Phase 2 trial also from Hoffmann-La Roche tests an oral medication called risdiplam in infants diagnosed early with spinal muscular atrophy before symptoms appear. By starting treatment early, the study aims to slow or prevent disease progression and improve motor function. Though the trial is no longer recruiting, results are already available and offer important insights into treating SMA at the earliest stages.

A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)

This Phase 2 trial by Astellas Gene Therapies is evaluating a gene therapy called AT132 for young children with X-linked myotubular myopathy, a rare muscle disorder that causes severe muscle weakness and breathing problems. The study focuses on children under 5 who require respiratory support, aiming to improve muscle function and reduce breathing difficulties. The trial is in the long-term follow-up phase, providing valuable information on the lasting effects of this treatment.

TrialsAlert subscribers received the full impact-classified briefing and doctor-ready report this week. Get weekly briefings at trialsalert.com.