Gene therapy offers hope for rare blood disorder
NCT ID NCT04105166
First seen Jun 25, 2026 · Last updated Jun 26, 2026 · Updated 1 time
Summary
This phase 1 trial tested a gene therapy called RP-L301 in 4 people with pyruvate kinase deficiency, a rare inherited blood disorder that causes severe anemia and often requires frequent blood transfusions. The treatment uses the patient's own blood stem cells, which are modified in a lab to carry a corrected gene, then infused back into the body. The main goal was to check safety, with early signs of whether the therapy can reduce transfusion needs.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
Active substance
RP-L301 (gene therapy using a patient's own blood stem cells with a corrected gene)
What this could lead to
If successful, this could point toward a one-time treatment that reduces or eliminates the need for blood transfusions in people with pyruvate kinase deficiency.
What could go wrong
This is a very early phase 1 trial with only 4 participants, so safety and effectiveness are not yet proven. Gene therapy carries risks like immune reactions or the treatment not working as expected.
Disclaimer
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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.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
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