Gene therapy offers hope for rare blood disorder patients
NCT ID NCT04105166
First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 24 times
Summary
This early-stage study tested a gene therapy for pyruvate kinase deficiency, a rare genetic blood disorder that causes severe anemia and often requires frequent blood transfusions. Four adults and children received their own blood stem cells modified to carry a working copy of the faulty gene. The main goal was to check safety, but researchers also looked for signs that the treatment could reduce or eliminate the need for transfusions.
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Locations
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Hospital Infantil Universitario Niño Jesús
Madrid, 28009, Spain
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Hospital Universitario Fundación Jiménez Díaz
Madrid, Spain
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Stanford University
Stanford, California, 94304, United States
Conditions
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