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Gene Therapy

Gene Therapy for Severe Combined Immunodeficiency

Phase 1 & 2

Recruiting

Led By Morton Cowan, MD

Research Sponsored by University of California, San Francisco

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

≥2.0 months of age at initiation of busulfan conditioning

Have no prior exposure to high dose busulfan

Must not have

Prior history of veno-occlusive disease (Sinusoidal obstruction syndrome) of the liver

Presence of a medical condition indicating that survival is predicted to be less than 4 months

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 15 years

Awards & highlights

No Placebo-Only Group

Summary

This trial will investigate if a new gene transfer method is safe and effective in treating Artemis-deficient Severe Combined Immunodeficiency (ART-SCID).

Who is the study for?

This trial is for patients with Artemis-deficient Severe Combined Immunodeficiency (ART-SCID) who haven't been treated with high-dose busulfan, don't have a suitable sibling donor, and are over 2 months old. It's also open to those who didn’t respond well to a previous transplant if they meet certain conditions.

What is being tested?

The study tests a gene therapy method where stem cells are modified with a normal DCLRE1C gene and infused back into the patient after low-dose busulfan conditioning. The goal is to see if this can safely rebuild the immune system in ART-SCID patients.

What are the potential side effects?

Potential side effects include reactions related to busulfan such as nausea, vomiting, liver problems, or mouth sores; complications from general anesthesia; and risks associated with stem cell infusion like infections or graft failure.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am at least 2 months old starting the busulfan treatment.

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I have never been treated with high dose busulfan.

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I don't have a healthy sibling match for a bone marrow donation.

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I have been diagnosed with ART-SCID.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have had a liver condition called veno-occlusive disease.

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My doctor expects I have less than 4 months to live due to my condition.

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I cannot undergo general anesthesia or procedures to collect stem cells.

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My liver tests are more than three times the normal limit or my total bilirubin is over 1.50 mg/dl.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 15 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~15 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 15 years for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Survival of patients with ART-SCID who receive self-inactivating (SIN) lentiviral vector (AProArt)-transduced CD34 cells through autologous stem cell transplant

Secondary study objectives

Dose of AProArt transduced cells

Hematopoietic recovery in patients with ART-SCID who receive self-inactivating (SIN) lentiviral vector (AProArt)-transduced CD34 cells through autologous stem cell transplant.

Immunoglobulin levels to measure establishment of B cell immune function in patients who have received AProArt lentiviral vector-transduced autologous CD34 hematopoietic stem cell transplant after low dose busulfan conditioning

+5 more

Other study objectives

Dose of AProArt transduced cells with a repeat infusion of gene-corrected cells

Effect of prophylactic sirolimus to reduce the occurrence of autoimmune hemolytic anemia following infusion of gene-corrected cells.

Effects of treatment with a repeat infusion of gene-corrected cells on survival for patients who do not develop adequate immunity

+16 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: Gene therapy (AProArt)Experimental Treatment3 Interventions

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.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

Busulfan

2008

Completed Phase 4

~1710

0 / 8Eligibility criteria met