Gene therapy offers hope for rare blood disorder

NCT ID NCT04105166

Completed Disease control Sponsor: Rocket Pharmaceuticals Inc. Source: ClinicalTrials.gov ↗

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.

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Conditions

The condition(s) this trial relates to.

anemia hemolytic anemia pyruvate kinase deficiency of red cells

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

PYRUVATE KINASE DEFICIENCY

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

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