One-Time gene therapy helps babies with rare muscle disease sit on their own

NCT ID NCT03837184

First seen Feb 01, 2026 · Last updated May 24, 2026 · Updated 17 times

Summary

This study tested a one-time gene therapy (AVXS-101) in infants under 6 months old with spinal muscular atrophy (SMA) type 1, a severe muscle-weakening disease. The main goal was to see if treated babies could sit without support for at least 10 seconds by 18 months of age. The therapy aims to replace the missing SMN1 gene to improve muscle function and survival.

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Contacts and locations

Locations

  • National Taiwan University Hospital

    Taipei, Taiwan

  • Pusan National University Yangsan Hospital

    Yangsan, Gyeongsangnam-do, South Korea

  • Seoul National University Hospital

    Seoul, South Korea

  • Tokyo Women's Medical University

    Tokyo, Japan

Conditions

Explore the condition pages connected to this study.