Actively Recruiting
Autologous Gene Therapy for Artemis-Deficient SCID
Led by University of California, San Francisco · Updated on 2026-02-13
24
Participants Needed
1
Research Sites
1043 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
This study aims to determine if a new method can be used to treat Artemis-deficient Severe Combined Immunodeficiency (ART-SCID), a severe form of primary immunodeficiency caused by mutations in the DCLRE1C gene. This method involves transferring a normal copy of the DCLRE1C gene into stem cells of an affected patient. Participants will receive an infusion of stem cells transduced with a self-inactivating lentiviral vector that contains a normal copy of the DCLRE1C gene. Prior to the infusion they will receive sub-ablative, dose-targeted busulfan conditioning. The study will investigate if the procedure is safe, whether it can be done according to the methods described in the protocol, and whether the procedure will provide a normal immune system for the patient. A total of 24 newly diagnosed patients will be enrolled at the University of California San Francisco in this single-site trial and will be followed for 15 years post-infusion. It is hoped that this type of gene transfer may offer improved outcomes for ART-SCID patients who lack a brother or sister who can be used as a donor for stem cell transplantation or who have failed to develop a functioning immune system after a previous stem cell transplant.
CONDITIONS
Official Title
Autologous Gene Therapy for Artemis-Deficient SCID
Who Can Participate
Eligibility Criteria
You may qualify if you...
- At least 2.0 months old at start of busulfan conditioning
- Newly diagnosed with typical or minimally leaky ART-SCID defined by bi-allelic pathogenic mutations in DCLRE1C
- CD3 count less than 50 autologous cells/µL or evidence of maternal chimerism, or CD3 count 50-300/µL with restricted T cell receptor diversity
- CD45 cell response to mitogens less than 50% of the lower limit of normal (for leaky ART-SCID)
- No medically eligible HLA-identical sibling with normal immune system available as donor (for newly diagnosed patients)
You will not qualify if you...
- Presence of a medically eligible HLA-matched sibling
- Evidence of HIV infection by PCR or p24 antigen test
- Unable to tolerate general anesthesia or marrow harvest or central venous catheter insertion
- Liver function tests (AST, ALT, GGT) more than 5 times upper limit of normal or total bilirubin over 2.0 mg/dl (unless due to specific exceptions) at start of busulfan conditioning
- Severe medical conditions making busulfan administration unsafe
- Recognized second gene mutation causing a hematopoietic disorder treatable by allogeneic transplant
- Medical condition predicting survival less than 4 months, such as need for mechanical ventilation or severe organ failure
- Family situation that may prevent following protocol or medical care
- Other conditions deemed by investigators to contraindicate infusion or study participation
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
University of California, San Francisco (UCSF) Children's Hospital
San Francisco, California, United States, 94143
Actively Recruiting
Research Team
M
Morton Cowan, MD
CONTACT
J
Jennifer Puck, MD
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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