Gene Therapy for ADA-SCID

January 23, 2008 updated by: IRCCS San Raffaele

Treatment of ADA-SCID by Gene Therapy on Somatic Cells

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Actual)

8

Phase

  • Phase 2
  • Phase 1

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
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 Names:
  • gene therapy

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

Outcome Measure
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS San Raffaele

Collaborators

Fondazione Telethon

Investigators

  • Principal Investigator: Bordignon Claudio, MD, IRCCS San Raffaele

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 1992

Primary Completion (Actual)

July 1, 2006

Study Completion (Actual)

January 1, 2007

Study Registration Dates

First Submitted

January 8, 2008

First Submitted That Met QC Criteria

January 23, 2008

First Posted (Estimate)

January 24, 2008

Study Record Updates

Last Update Posted (Estimate)

January 24, 2008

Last Update Submitted That Met QC Criteria

January 23, 2008

Last Verified

December 1, 2007

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 150291

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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