Breakthrough injection stops devastating muscle disease before it starts

NCT ID NCT02386553

Summary

This study tested whether regular spinal fluid injections of an experimental drug called nusinersen could prevent or delay the onset of spinal muscular atrophy (SMA) in infants who had the genetic cause but showed no symptoms yet. It involved 25 infants under 6 weeks old who received the injections. The main goal was to see if the treatment could prevent the need for breathing support or death, and help infants reach normal movement milestones like sitting and walking.

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Contacts and locations

Locations

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    Chicago, Illinois, 60611-2605, United States

  • Children's Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Columbia University

    New York, New York, 10032, United States

  • David Geffen School of Medicine

    Los Angeles, California, 90095, United States

  • Fondazione Serena Onlus - Centro Clinico Nemo

    Milan, 20162, Italy

  • Hacettepe University Medical Faculty

    Ankara, 6230, Turkey (Türkiye)

  • Hamad General Hospital

    Doha, 3050, Qatar

  • Kaohsiung Medical University Chung-Ho Memorial Hospital

    Kaohsiung City, 807, Taiwan

  • Massachusetts General Hospital

    Boston, Massachusetts, 02114, United States

  • National Taiwan University Hospital

    Taipei, 100, Taiwan

  • Nemours Children's Hospital, Orlando

    Orlando, Florida, 32827, United States

  • Ospedale Pediatrico Bambino Gesù

    Rome, Lazio, 165, Italy

  • Queensland Children's Hospital

    South Brisbane, Queensland, 4101, Australia

  • Royal Children's Hospital

    Parkville, Victoria, 3052, Australia

  • Seattle Children's Research Institute

    Seattle, Washington, 98101, United States

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States

  • The Johns Hopkins Hospital

    Baltimore, Maryland, 21205, United States

  • Universitaetsklinikum Freiburg

    Freiburg im Breisgau, Baden-Wurttemberg, 79106, Germany

  • University of California Davis Health System

    Sacramento, California, 95817, United States

  • University of Utah

    Salt Lake City, Utah, 84112, United States

  • Yeditepe University Medical School Hospital

    Istanbul, 31755, Turkey (Türkiye)

Conditions

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