Groundbreaking gene therapy helps babies with rare muscle disease sit and stand

NCT ID NCT03505099

First seen Feb 01, 2026 · Last updated May 15, 2026 · Updated 13 times

Summary

This study tested a single dose of a gene therapy called AVXS-101 in 30 infants with spinal muscular atrophy (SMA) who were diagnosed before symptoms started. The goal was to see if the treatment could help them reach motor milestones like sitting and standing alone. Results showed that many infants achieved these milestones, suggesting the therapy can significantly improve outcomes for this serious genetic condition.

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Contacts and locations

Locations

  • Canada Childrens Hospital of Eastern Ontario

    Ottawa, Ontario, K1H8L1, Canada

  • Centre Hospitalier Régional Hôpital La Citadelle

    Liège, 4000, Belgium

  • Children's Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Children's Medical Center Dallas

    Dallas, Texas, 75235, United States

  • Clinic for Special Children

    Strasburg, Pennsylvania, 17579, United States

  • Columbia University Medical Center

    New York, New York, 10032, United States

  • David Geffen School of Medicine at UCLA

    Los Angeles, California, 90095, United States

  • Great Ormond Street Hospital for Children NHS Foundation Trust

    London, WC1N 3JH, United Kingdom

  • Helen DeVos Children's Hospital

    Grand Rapids, Michigan, 49503, United States

  • Massachusetts General Hospital

    Boston, Massachusetts, 02114, United States

  • Nationwide Children's Hospital

    Columbus, Ohio, 43205, United States

  • Nemours Children's Hospital

    Orlando, Florida, 32827, United States

  • St. Louis Children's Hospital

    St Louis, Missouri, 63110, United States

  • Sydney Children's Hospital

    Randwick, New South Wales, 2145, Australia

  • Tokyo Women's Medical

    Tokyo, Japan

  • University Hospital and UW Health Clinics

    Madison, Wisconsin, 53792, United States

Conditions

Explore the condition pages connected to this study.