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Gene Therapy

Gene Therapy for Pyruvate Kinase Deficiency

Phase 1
Waitlist Available
Led By Ami Shah, MD
Research Sponsored by Rocket Pharmaceuticals Inc.
Eligibility Criteria Checklist
Specific guidelines that determine who can or cannot participate in a clinical trial
Must have
PKD diagnosis with a confirmed PKLR mutation.
PKD diagnosis with a confirmed PKLR mutation
Must not have
Recent venous thromboembolic event or arteriothromboembolic event
Severe iron overload
Timeline
Screening 3 weeks
Treatment Varies
Follow Up 2 years
Awards & highlights
No Placebo-Only Group

Summary

This trial is testing a new gene therapy for people with Pyruvate Kinase Deficiency, a rare blood disorder. The goal is to find out if the therapy is safe.

Who is the study for?
This trial is for people with Pyruvate Kinase Deficiency (PKD) who are between 8-50 years old, depending on enrollment phase. They must have a history of multiple blood transfusions and low hemoglobin levels despite treatment like splenectomy. Participants need to be in good health regarding heart, lung, kidney, and liver function.
What is being tested?
The trial is testing RP-L301, a gene therapy aimed at treating PKD. It's an early-phase study focusing on the safety of this new treatment where all participants receive the intervention without any comparison group.
What are the potential side effects?
As it's an early-stage trial for gene therapy, specific side effects aren't listed but may include reactions related to the body’s acceptance of new genes and general risks associated with bone marrow procedures.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below
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I have been diagnosed with PKD and have a confirmed PKLR mutation.
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I have been diagnosed with PKD and have a confirmed PKLR mutation.
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I have had severe anemia requiring blood transfusions.
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My hemoglobin levels have been below 9.5 despite having my spleen removed.
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I've needed multiple blood transfusions in the past few years without major surgery or infections.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:
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I have had a recent blood clot in my veins or arteries.
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I have a high level of iron in my body.
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My lung function is not normal.
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I have an active blood or solid organ cancer.
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I have heart or kidney problems.
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I struggle with daily activities due to my health.
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I have other conditions causing red blood cells to break down, not just PKD.
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I have seizures that are not controlled by medication.
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I have no medical reasons preventing me from undergoing leukapheresis or bone marrow harvest.

Timeline

Screening ~ 3 weeks
Treatment ~ Varies
Follow Up ~2 years
This trial's timeline: 3 weeks for screening, Varies for treatment, and 2 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.
Primary study objectives
Evaluation of the safety and toxicity of RP-L301: number of participants with treatment-related adverse events
Secondary study objectives
Clinically significant reduction in anemia
Genetic correction following administration of RP-L301
Blood Transfusion
+2 more

Awards & Highlights

No Placebo-Only Group
All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups
Experimental Treatment
Group I: RP-L301Experimental Treatment1 Intervention
RP-L301 is a gene therapy product containing autologous genetically modified CD34+ hematopoietic stem cells containing the corrected PKD gene

Find a Location

Who is running the clinical trial?

Rocket Pharmaceuticals Inc.Lead Sponsor
16 Previous Clinical Trials
421 Total Patients Enrolled
1 Trials studying Pyruvate Kinase Deficiency
10 Patients Enrolled for Pyruvate Kinase Deficiency
Ami Shah, MDPrincipal InvestigatorStanford University
1 Previous Clinical Trials
10 Total Patients Enrolled
1 Trials studying Pyruvate Kinase Deficiency
10 Patients Enrolled for Pyruvate Kinase Deficiency
Julián Sevilla Navarro, MD, PhDPrincipal InvestigatorHospital Universitario Fundación Jiménez Díaz
4 Previous Clinical Trials
24 Total Patients Enrolled
~0 spots leftby May 2025
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