First patients receive One-Time gene therapy for rare blood disorder

NCT ID NCT04105166

Summary

This early-stage study tested the safety of a one-time gene therapy for adults and children with pyruvate kinase deficiency, a rare genetic blood disorder. Doctors collected patients' own blood stem cells, corrected the faulty gene in a lab, and then infused the cells back. The main goal was to see if this process was safe, while also checking if it could reduce the need for blood transfusions and improve anemia.

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Contacts and locations

Locations

  • Hospital Infantil Universitario Niño Jesús

    Madrid, 28009, Spain

  • Hospital Universitario Fundación Jiménez Díaz

    Madrid, Spain

  • Stanford University

    Stanford, California, 94304, United States

Conditions

Explore the condition pages connected to this study.