Gene Therapy ADA Deficiency

Plain-language summary

This Phase 1/Phase 2 study examines a gene therapy in which a patient's own corrected cells are given by vein, for patients with severe combined immunodeficiency due to ADA enzyme deficiency (ADA-SCID). It included patients with DNA-confirmed ADA-SCID who lack a suitable bone marrow donor and whose immune system does not fully recover on current enzyme replacement therapy. It was carried out in Phase 1/Phase 2 and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

PHASE1/PHASE2

Status

Completed

Sponsor

Great Ormond Street Hospital for Children NHS Foundation Trust

Intervention

Intravenous infusion of transduced cells

Start date

10/1/2003

Estimated completion

11/1/2013

Countries

United Kingdom

Related genes

Locations

• London, United Kingdom

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

1. Patients who lack a human leukocyte antigen (HLA)-genotypically identical bone marrow donor OR phenotypically matched family or unrelated donor AND who show incomplete immune reconstitution on Polyethylene glycol-modified adenosine deaminase (PEG-ADA) enzyme replacement therapy (defined by absolute CD4+ count \<300 cell/mm3 and who remain on immunoglobulin replacement therapy)
2. Diagnosis of ADA-SCID (Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA)confirmed by DNA sequencing OR by confirmed absence of \<3% of ADA enzymatic activity in peripheral blood or (for neonates) in umbilical cord blood erythrocytes and/or leukocytes or in cultured fetal cells derived from either chorionic villus biopsy or amniocentesis, prior to institution of PEG-ADA replacement therapy
3. Parental/guardian/patient signed informed consent