Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants

• Status: Recruiting
• Trial end date: 2034-08-01
• Target enrollment: 0
• Participant gender: Male

Summary

SCID-X1 is a genetic disorder of blood cells caused by DNA changes in a gene that is required for the normal development of the human immune system. The purpose of this study is to determine if a new method, called lentiviral gene transfer, can be used to treat SCID-X1. This method involves transferring a normal copy of the common gamma chain gene into the participant's bone marrow stem cells. The investigators want to determine if the procedure is safe, whether it can be done according to the methods they have developed, and whether the procedure will provide a normal immune system for the patient. It is hoped that this type of gene transfer may offer a new way to treat children with SCID-X1 that do not have a brother or sister who can be used as a donor for stem cell transplantation.

• Phase: Phase 1/Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: St. Jude Children's Research Hospital
• Collaborators: Assisi Foundation; California Institute for Regenerative Medicine (CIRM); National Heart, Lung, and Blood Institute (NHLBI)
• Treatments: Busulfan

Criteria

Inclusion Criteria:

• Treatment Eligibility Criteria:

• Age <2 years at the time of enrollment.

• No prior therapy with allogeneic stem cell transplantation.

• A clinical diagnosis of SCID-X1 documented in the medical record.

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

• Age > 2 months to < 1 year of age at the time of busulfan administration.

• Less than 300 CD3+ T-cells by flow cytometry or higher if evidence of maternal engraftment as supported by peripheral blood FISH analysis for XY and XX.

• Lymphocyte proliferation to phytohemagglutinin (PHA) <10% of the lower limit of normal for the laboratory.

Treatment Exclusion Criteria:

• Availability of a HLA matched sibling for allogeneic transplantation

• Prior therapy with allogeneic stem cell transplantation

• Positive for HIV infection by genome PCR

• Presence of a medical condition indicating that survival will be less than 16 weeks such as the requirement for mechanical ventilation, severe failure of a major organ system, or evidence of a serious, progressive infection that is refractory to medical therapy.

• The presence of any medical contraindications to general anesthesia and bone marrow harvest by aspiration

• A social situation indicating that the family may not be able to comply with protocol procedures and recommended medical care.