Autologous Gene Therapy for Artemis-Deficient SCID

Part of paid clinical trials in San Francisco, California.

Sponsor
University of California, San Francisco
Study ID
NCT03538899
Phase
PHASE1/PHASE2
Status
Recruiting
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Conditions

  • Severe Combined Immunodeficiency

Eligibility Criteria

Sex
ALL
Age
2 Months - N/A
Healthy Volunteers
Not accepted

Interventions

  • AProArt-CD34 — DRUG
    Participants will undergo infusion with autologous hematopoietic cells transduced with a lentiviral vector, AProArt, which contains the correct form of DCLRE1C complementary deoxyribonucleic acid DNA, after receiving sub-ablative, exposure-targeted busulfan conditioning.
  • CliniMACS® CD34 Reagent System cell sorter device — DEVICE
    Processing of hematopoietic progenitor cells to select CD34 cells, using the CliniMACS® CD34 Reagent System, prior to infusion.
  • Busulfan — DRUG
    Busulfan is a cell cycle non-specific alkylating antineoplastic agent, in the class of alkyl sulfonates. Patients will receive low-dose busulfan conditioning targeted over 2 days to achieve a cumulative area under the curve (AUC) of 20 mg\*hr/L.

Study Details

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.

Key Dates

Start date
May 31, 2018
Status verified
Feb 2026
Primary completion
Jun 30, 2038
Completion
Jun 30, 2038

Study Design

Enrollment
24 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT

Arms

  • Experimental: Gene therapy (AProArt)
    Gene Transfer for Artemis-Deficient Severe Combined Immunodeficiency (ART-SCID) Using a Self-Inactivating Lentiviral Vector (AProArt) to Transduce Autologous CD34 Hematopoietic Cells. The CliniMACS® CD34 Reagent System sorter device will be used to select CD34 cells. Patients will be conditioned with low dose busulfan prior to transplant.

Primary Outcome Measure

To demonstrate that ART-SCID patients receiving AProArt-CD34 infusion have superior overall survival (OS) at 24 months post treatment with AProArt-CD34 versus the established outcome of 0% OS for patients who receive no treatment for ART-SCID [ Time Frame: 24 months ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of California, San Francisco (UCSF) Children's HospitalSan FranciscoCalifornia94143-

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University of California, San Francisco (UCSF) Children's Hospital· San Francisco, CA

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