Gene Therapy for ADA-SCID

San Donato Group (GSD)

Status and phase: Completed; Phase 2; Phase 1

Conditions: Severe Combined Immunodeficiency Syndrome

Treatments: Genetic: gene transduced PBL and/or gene transduced HSC

Study type: Interventional

Funder types: Other

Identifiers

NCT00599781

150291

Details and patient eligibility

About

This study investigated the safety and efficacy of different gene therapy approaches for Severe Combined Immunodeficiency (SCID) caused by the deficiency of adenosine deaminase (ADA) enzyme. This is a severe condition that can be cured by HLA-matched sibling donor bone marrow transplantation. Patients were enrolled if no HLA-identical sibling donor was available and the patient showed evidence of failure of enzyme replacement therapy or this treatment was not a long-term available option. The aim of the study was to evaluate the safety and efficacy of the procedure and to identify the relative role of peripheral blood lymphocytes and hematopoietic stem cells and progenitor cells in the long-term reconstitution of immune functions after retroviral vector mediated ADA gene transfer.

Full description

This is mono-centric, non-randomized, non-controlled, open label, phase I-II trial that evaluated the safety and efficacy of ADA gene transfer into somatic cells for the treatment of ADA-SCID

Enrollment: 8 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• Lack of HLA-identical sibling donor and
• Evidence of failure of the enzyme replacement treatment after >6 months or
• PEG-ADA is not available as a life long option

Exclusion criteria

• HLA identical bone marrow sibling donor
• HIV infection
• Malignancy

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

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8 participants in 1 patient group

PBL/HSC

Experimental group

Treatment:

Genetic: gene transduced PBL and/or gene transduced HSC