Gene therapy offers hope for rare blood disorder

NCT ID NCT06422351

First seen Apr 25, 2026 · Last updated May 05, 2026 · Updated 3 times

Summary

This study tests a gene therapy for people with pyruvate kinase deficiency, a rare blood disorder causing severe anemia. About 10 participants will receive an infusion of their own blood stem cells that have been modified to produce a working version of the missing enzyme. The goal is to raise hemoglobin levels and reduce the need for blood transfusions.

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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

    Palo Alto, California, 94305, United States

Conditions

Explore the condition pages connected to this study.