One-Shot gene therapy aims to stop devastating muscle disease before it starts

NCT ID NCT03505099

Summary

This study tested a single, one-time gene therapy injection in infants who were diagnosed with spinal muscular atrophy (SMA) but had not yet shown symptoms. The goal was to see if delivering a working copy of a missing gene could prevent or control the severe muscle weakness and breathing problems caused by SMA. Researchers followed 30 infants to check if the treatment was safe and if it helped them reach important movement milestones like sitting and standing.

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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.