Gene Therapy for Bubble Boy Disease

Recruiting in Palo Alto (17 mi)

Overseen bySuk S De Ravin, M.D.

Age: Any Age

Sex: Male

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Phase 1 & 2

Waitlist Available

Sponsor: National Institute of Allergy and Infectious Diseases (NIAID)

No Placebo Group

Trial Summary

What is the purpose of this trial?

Background: X-linked severe combined immunodeficiency (XSCID) is a rare inherited disorder that affects the immune system. It is caused by a change in the IL2RG gene. Researchers are investigating a new type of gene therapy for people with XSCID. This technique, called base-edited stem cell transplants, involves collecting a person s own stem cells, editing the genes to repair IL2RG gene, and returning the edited cells to the person. Objective: To test base-edited stem cell transplants in people with XSCID. Eligibility: People aged 3 years and older with XSCID. Design: Participants will be screened. They will have a physical exam. They may give blood, urine, and stool samples. They may have tests of their heart and lung function. They may have fluid and cells drawn from their bone marrow. Participants will undergo apheresis. Blood will be taken from the body through a needle inserted into 1 arm. The blood will pass through a machine that separates out the stem cells. The remaining blood will be returned to the body through a different needle. The collected stem cells will undergo gene editing. Participants will be admitted to the hospital 1 week before treatment. They will receive a central line: A flexible tube will be inserted into a large vein. This tube will be used to administer drugs and draw blood during their stay. They will receive drugs to prepare their bodies for the treatment. The base-edited stem cells will be infused through the central line. Participants will remain in the hospital for at least 3 weeks while they recover. Follow-up visits will continue for 15 years.

Research Team

Suk S De Ravin, M.D.

Principal Investigator

National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility Criteria

This trial is for people aged 3 years and older with X-linked severe combined immunodeficiency (XSCID), also known as 'Bubble Boy Disease'. Participants will undergo various screenings including physical exams, blood tests, and heart and lung function tests. They must be able to endure apheresis (a procedure to collect stem cells) and hospitalization.

Inclusion Criteria

I have a chronic lung condition confirmed by tests.

I have had long-term yeast infections in my mouth, throat, skin folds, or nails confirmed by lab tests.

Expected survival of at least 120 days

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Exclusion Criteria

I cannot take busulfan due to health reasons.

Known hypersensitivity to busulfan or any component of the product

Any other condition that, in the opinion of the investigator, may compromise the safety or compliance of the participant, or would preclude the patient from successful study completion

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Treatment Details

Interventions

Base-edited hematopoietic stem and progenitor cells (Gene Therapy)

Trial OverviewThe trial is testing a new gene therapy for XSCID by editing the genes in a patient's own stem cells to repair the IL2RG gene defect. The process includes collecting stem cells through apheresis, gene editing in the lab, then infusing these edited cells back into patients after pre-treatment with drugs like Plerixafor, Filgrastim, Palifermin, Busulfan.

Participant Groups

1Treatment groups

Experimental Treatment

Group I: Single Arm StudyExperimental Treatment5 Interventions