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Gene Therapy for ADA-SCID

This study has been completed.
Fondazione Telethon
Information provided by:
IRCCS San Raffaele Identifier:
First received: January 8, 2008
Last updated: January 23, 2008
Last verified: December 2007
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.

Condition Intervention Phase
Severe Combined Immunodeficiency Syndrome
Genetic: gene transduced PBL and/or gene transduced HSC
Phase 1
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Treatment of ADA-SCID by Gene Therapy on Somatic Cells

Resource links provided by NLM:

Further study details as provided by IRCCS San Raffaele:

Primary Outcome Measures:
  • Evaluation of safety of the administration of the autologous PBL and/or autologous HSC transduced with the normal human ADA gene

Secondary Outcome Measures:
  • 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

Enrollment: 8
Study Start Date: March 1992
Study Completion Date: January 2007
Primary Completion Date: July 2006 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: PBL/HSC Genetic: gene transduced PBL and/or gene transduced HSC
infusions of autologous PBL and/or HSC transduced with retroviral vectors encoding ADA
Other Name: gene therapy

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

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
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Please refer to this study by its identifier: NCT00599781

Sponsors and Collaborators
IRCCS San Raffaele
Fondazione Telethon
Principal Investigator: Bordignon Claudio, MD IRCCS San Raffaele
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):

Responsible Party: Claudio Bordignon, IRCCS San Raffaele Identifier: NCT00599781     History of Changes
Other Study ID Numbers: 150291
Study First Received: January 8, 2008
Last Updated: January 23, 2008

Keywords provided by IRCCS San Raffaele:
adenosine deaminase
gene therapy
retroviral vector

Additional relevant MeSH terms:
Immunologic Deficiency Syndromes
Severe Combined Immunodeficiency
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases processed this record on May 23, 2017