New hope for babies with rare muscle disease: enzyme therapy trial shows promise

NCT ID NCT04910776

First seen Apr 21, 2026 · Last updated Apr 25, 2026 · Updated 2 times

Summary

This study tests a new enzyme replacement therapy called avalglucosidase alfa in infants with Pompe disease, a rare genetic disorder that causes severe muscle weakness. The treatment is given through an IV every other week for up to 4 years. The main goal is to see if it helps babies survive without needing a breathing machine. The study involves 17 infants who have not received prior treatment for this condition.

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Contacts and locations

Locations

  • Advanced Medical Genetics- Site Number : 8400002

    Hawthorne, New York, 10532, United States

  • Children's Hospitals and Clinics of Minnesota- Site Number : 8400008

    Minneapolis, Minnesota, 55404, United States

  • Cincinnati Children's Hospital Medical Center- Site Number : 8400001

    Cincinnati, Ohio, 45229, United States

  • Duke University Medical Center- Site Number : 8400004

    Durham, North Carolina, 27710, United States

  • Investigational Site Number : 0560001

    Leuven, 3000, Belgium

  • Investigational Site Number : 1560001

    Shanghai, 200120, China

  • Investigational Site Number : 1560002

    Qingdao, 266034, China

  • Investigational Site Number : 1580001

    Taipei, 100, Taiwan

  • Investigational Site Number : 2760001

    Bad Oeynhausen, 35392, Germany

  • Investigational Site Number : 3800002

    Monza, Lombardy, 20052, Italy

  • Investigational Site Number : 5280001

    Rotterdam, 3015 CE, Netherlands

  • Investigational Site Number : 7240001

    Esplugues de Llobregat, Catalunya [Cataluña], 08950, Spain

  • Investigational Site Number : 8260001

    London, London, City of, WC1N 3JH, United Kingdom

  • Investigational Site Number : 8260002

    Manchester, M13 9WL, United Kingdom

  • Seattle Children's Hospital- Site Number : 8400003

    Seattle, Washington, 98105, United States

  • Stanford Hospital- Site Number : 8400006

    Stanford, California, 94305, United States

Conditions

Explore the condition pages connected to this study.