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Completed

NCT Number: NCT00599781

Gene Therapy for ADA-SCID

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.

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Key information

Conditions

Severe Combined Immunodeficiency Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities DNA Repair-Deficiency Disorders Genetic Diseases, Inborn Immune System Diseases Immunologic Deficiency Syndromes Infant, Newborn, Diseases Metabolic Diseases Nutritional and Metabolic Diseases Primary Immunodeficiency Diseases Severe Combined Immunodeficiency

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

gene transduced PBL and/or gene transduced HSC

Genetic

infusions of autologous PBL and/or HSC transduced with retroviral vectors encoding ADA

Other names: gene therapy

Primary outcomes

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

Secondary outcomes

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

  2. Evaluation of efficacy of the administration of autologous PBL/HSC(Clinical, immunological, hematological, microbiological, ADA activity and purine metabolism)

  3. 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

Sponsors and collaborators

Lead sponsor

IRCCS San Raffaele

Other

Collaborators

  • Fondazione Telethon

Registry information

Official study title

Treatment of ADA-SCID by Gene Therapy on Somatic Cells

Important dates

Study start
1992
Primary completion
2006
Study completion
2007
First posted
Jan 24, 2008
Registry last updated
Jan 24, 2008

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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