Gene Therapy for ADA-SCID

Phase 1

Completed

• Conditions: Severe Combined Immunodeficiency Syndrome
• Interventions: Genetic: gene transduced PBL and/or gene transduced HSC

• Registration Number: NCT00599781
• Lead Sponsor: IRCCS San Raffaele

Brief Summary

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.

Detailed 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

Study Timeline

• Study Start: 1992-03
• Primary Completion: 2006-07
• Study Completion: 2007-01
• Status Verified: 2007-12
• Study First Submitted: 2008-01-08
• Study First Submitted QC: 2008-01-23
• Last Update Submitted: 2008-01-23
• Study First Posted: 2008-01-24
• Last Update Posted: 2008-01-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 8

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
PBL/HSC	gene transduced PBL and/or gene transduced HSC	-

Primary Outcome Measures

Name	Time	Method
Evaluation of safety of the administration of the autologous PBL and/or autologous HSC transduced with the normal human ADA gene

Secondary Outcome Measures

Name	Time	Method
Evaluation of extent, kinetic and duration of the engraftment of transduced cells and the potential selective advantage of ADA positive cells
Evaluation of efficacy of the administration of autologous PBL/HSC(Clinical, immunological, hematological, microbiological, ADA activity and purine metabolism)
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 gene therapy