Gene Therapy for Bubble Boy Disease

Phase 1 & 2

Recruiting

Led By Suk S De Ravin, M.D.

Research Sponsored by National Institute of Allergy and Infectious Diseases (NIAID)

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

A proven mutation in the common gamma chain gene as defined by direct sequencing of patient DNA

Must be between 2 and 40 years of age and weigh greater than or equal to 10 kg

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 2 years

Awards & highlights

No Placebo-Only Group

Summary

This trial aims to test a new treatment for X-linked severe combined immunodeficiency (XSCID), also known as SCID-X1. The treatment involves transferring a corrected gene into the patient's

Who is the study for?

This trial is for children and adults aged 2 to 40 with X-linked severe combined immunodeficiency (XSCID) who lack a matched sibling bone marrow donor, may have had an unsuccessful half-matched transplant, and show significant immune impairment. Participants must weigh at least 10 kg, be HIV negative, have documented B cell dysfunction or need for IVIG therapy, and be able to comply with the study's long-term follow-up.

What is being tested?

The trial tests gene transfer using lentiviral vectors in patients' own blood stem cells to treat XSCID. The process involves collecting these cells from the patient, treating them with a corrective gene vector in culture, then returning them via vein after pre-treatment with low-dose busulfan chemotherapy and palifermin to reduce mucositis side effects.

What are the potential side effects?

Potential side effects include mouth, stomach, and bowel inflammation due to busulfan (mucositis), which palifermin aims to prevent. There are also risks associated with gene therapy such as immune reactions or unintended genetic changes that could lead to complications like leukemia.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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My DNA test shows a mutation in the common gamma chain gene.

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I am between 2 and 40 years old and weigh at least 10 kg.

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I have a history of severe B cell dysfunction or need IVIG due to low IgG levels.

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I do not have a sibling donor match for a transplant.

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My HLA type has been determined.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 2 years

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

Early evidence for efficacy will be defined by appearance and expansion in the circulation of autologous transduced T-lymphocytes with functional gmama-c and improved laboratory measures of immune function in the interim evaluation of these para...

Secondary study objectives

Therapeutic procedure