Gene Therapy for ADA-SCID

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Brief Title

Gene Therapy for ADA-SCID

Official Title

Treatment of ADA-SCID by Gene Therapy on Somatic Cells

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 Phase

Phase 1/Phase 2

Study Type


Primary Outcome

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

Secondary Outcome

 Evaluation of extent, kinetic and duration of the engraftment of transduced cells and the potential selective advantage of ADA positive cells


Severe Combined Immunodeficiency Syndrome


gene transduced PBL and/or gene transduced HSC

Study Arms / Comparison Groups



* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

March 1992

Completion Date

January 2007

Primary Completion Date

July 2006

Eligibility Criteria

        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




N/A - N/A

Accepts Healthy Volunteers



Bordignon Claudio, MD, , 

Administrative Informations



Organization ID


Study Sponsor

IRCCS San Raffaele


 Fondazione Telethon

Study Sponsor

Bordignon Claudio, MD, Principal Investigator, IRCCS San Raffaele

Verification Date

December 2007