Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID)

• Register: ClinicalTrials.gov
• Last refreshed on: 16 December 2017
• Main ID: NCT00028236
• Date of registration: 17/12/2001
• Prospective Registration: No
• Primary sponsor: National Institute of Allergy and Infectious Diseases (NIAID)
• Public title: Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID)
• Scientific title: Ex Vivo Retroviral Gene Transfer For Treatment of X-Linked Severe Combined Immunodeficiency (XSCID)
• Date of first enrolment: December 10, 2001
• Target sample size: 3
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/show/NCT00028236
• Study type: Interventional
• Study design: Primary purpose: Treatment.
• Phase: Phase 1

Countries of recruitment

United States

Key inclusion & exclusion criteria

- INCLUSION CRITERIA:

Patients must have XSCID as defined by either a deleterious mutation in IL2RG, the absence
of or less than 5% of normal detectable gc protein, or evidence of functionally defective
gc protein.

Patients must be between 1.5 and 20 years of age.

Patients must weigh at least 12 kg.

Patients will have evidence of combined B-cell and T-cell immune deficiency over at least a
6 month period despite previous allogeneic BMT at least 12 months prior to study entry.
T-cell immune deficiency is defined as one or more of the following: Total T-cell count
less than 500/ul; less than 50% of normal value for in vitro mitogen stimulation; or absent
proliferation in vitro to antigens. B-cell immune deficiency is defined as one or more of
the following: IgM, IgA or IgE values which are 2 or more standard deviations below the
established value for normal, IgG values falling to less than 30% of normal during
unintended interruptions or delay in the periodic administration of IVIG; or documented
failure to respond to a specific antigen challenge.

Patients must have less than or equal to 3% of their mobilized CD34+ cells deriving from
their allogeneic bone marrow donor.

Willingness to remain hospitalized for several days to several weeks.

Have a primary care physician at home.

Consent to permit blood and/or tissue samples for storage.

EXCLUSION CRITERIA:

Any current or preexisting hematologic malignancy.

Current treatment with any chemotherapeutic agent.

Current treatment with any immunosuppressive agent, excluding corticosteroids.

Documented HIV-1 infection.

Documented Hepatitis B infection.

Childhood malignancy (occurring before 18 years of age) in the patient or a first degree
relative, or known genotype of the subject conferring a predisposition to cancer.



Age minimum: 18 Months
Age maximum: 20 Years
Gender: All

Health Condition(s) or Problem(s) studied

Severe Combined Immunodeficiency

Intervention(s)

Drug: Gene-Transduced Autologous CD34+ Stem Cells

Secondary ID(s)

02-I-0057

020057

Source(s) of Monetary Support

Please refer to primary and secondary sponsors