Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
Lentiviral Gene Transfer for Treatment of Children Older Than 2 Years of Age With X-Linked Severe Combined Immunodeficiency
Doctors seek patients 2 months of age and older with X-linked severe combined immunodeficiency (XSCID) caused by mutations in the IL2RG gene. Researchers will withdraw stem cells, gene-modify them with a virus to deliver a normal copy of the IL2RG gene, and return them to the patient after a low dose of chemotherapy. It is hoped this will provide the patients with a normal immune system.
Study participants will undergo a blood draw treatment that sorts out specific cells and returns the blood to the patient. After the gene modification in the lab, the cells are infused post chemotherapy and the patient will be closely assessed for 6 weeks, then followed for up to 15 years after the procedure to evaluate the long-term effects of gene transfer therapy.
- Be 2 months to 40 years of age
- Have a diagnosis of XSCID
- Meet lab assessments for minimal levels of the type of immune cells targeted by the gene therapy
- Have expected survival of at least 120 days.
THE STUDY INVOLVES:
- Participants will be screened with a medical history, physical examination, blood and urine tests, and bone marrow samples to collect stem cells for the procedure.
- Participants will be admitted to the National Institutes of Health Clinical Center 11 to 12 days before receiving gene-corrected blood stem cells.
- Participants will receive palifermin for 3 days, followed by busulfan for 2 days. Palifermin will help prevent side effects from busulfan, and busulfan will help suppress the immune system in preparation for the gene transfer. Participants will have regular blood tests during this preparation period.
- Participants will receive a transfer of their corrected blood stem cells about 36 to 48 hours after the second dose of busulfan. The cells will be injected over 5 to 10 minutes under close monitoring.
- The day after the transfer, participants will have 3 more days of palifermin.
- Participants will remain in the hospital for several weeks, possibly as long as 6 weeks, while the response to treatment is monitored.
- Participants will continue to be monitored for immune function and possible side effects after leaving the hospital, and will be followed for up to 15 years after the procedure to evaluate the long-term effects of gene transfer therapy. The monitoring will involve regular physical exams and blood samples.
LOCATIONS AND CONTACTS:
Trials will take place at the National Institutes of Health Clinical Center in Bethesda, MD. Map.
National Institute of Allergy and Infectious Diseases (NIAID)
Or go online: