Gene Therapy for Pyruvate Kinase Deficiency

Recruiting at 2 trial locations

Overseen By PKD Clinical Trial

Age: < 65

Sex: Any

Trial Phase: Phase 1

Sponsor: Rocket Pharmaceuticals Inc.

Disqualifiers: HIV, Hepatitis, Hypertension, Seizure, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

5 Participants Needed

Trial Summary

What is the purpose of this trial?

This is an open-label Phase I trial to evaluate the safety of a hematopoietic cell-based gene therapy for patients with Pyruvate Kinase Deficiency (PKD).

Research Team

José Luis López Lorenzo, MD

Principal Investigator

Hospital Universitario Fundación Jiménez Díaz

Ami Shah, MD

Principal Investigator

Stanford University

Julián Sevilla Navarro, MD, PhD

Principal Investigator

Hospital Universitario Fundación Jiménez Díaz

Eligibility Criteria

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.

Inclusion Criteria

I have been diagnosed with PKD and have a confirmed PKLR mutation.

Willing and able to read and understand the patient information sheet and provide consent (or informed assent for minors)

Negative serum pregnancy test for female patients of childbearing potential

Exclusion Criteria

I have had a recent blood clot in my veins or arteries.

I have a high level of iron in my body.

My lung function is not normal.

Treatment Details

Interventions

• RP-L301

Trial Overview 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.

Participant Groups

Group I: RP-L301 Experimental Treatment 1 Intervention

RP-L301 is a gene therapy product containing autologous genetically modified CD34+ hematopoietic stem cells containing the corrected PKD gene

Who Is Running the Clinical Trial?

Rocket Pharmaceuticals Inc.

Lead Sponsor

Trials

17

Recruited

430+