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ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID

NCT00598481 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2024-01-29

Study results available
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Summary

This is a phase I/II protocol to evaluate the safety and efficacy of ADA gene transfer into hematopoietic stem/progenitor cells for the treatment of adenosine deaminase (ADA)-deficiency. This condition is an autosomal recessive form of Severe Combined Immunodeficiency (SCID) characterized by impaired immune responses, recurrent infections, failure to thrive and systemic toxicity due to accumulation of purine metabolites. Transplants from an human leukocyte-antigen (HLA)-identical sibling donor is the treatment of choice, but available for a minority of patients. The use of alternative bone marrow donors or enzyme replacement therapy is associated with important drawbacks. The drug product studied in this protocol consists of autologous cluster of differentiation (CD)34+ hematopoietic stem/progenitor cells engineered ex vivo with a retroviral vector encoding the therapeutic gene ADA. The engineered CD34+ cells are infused following a nonmyeloablative conditioning with busulfan to make space in the bone marrow. The study objectives are: a) to evaluate the safety and the clinical efficacy of gene therapy, in the absence of enzyme replacement therapy; b) to evaluate the biological activity (engraftment, ADA expression) of ADA transduced CD34+ cells and their hematopoietic progeny. c) to evaluate the immunological reconstitution and purine metabolism after gene therapy.

Conditions

  • Immunologic Deficiency Syndromes

Interventions

GENETIC

Gene Therapy

Infusion of autologous CD34+ cells transduced with retroviral vector encoding ADA after non-myeloablative conditioning with busulfan

DRUG

Busulfan

Busulfan is used for non-myeloablative conditioning

Sponsors & Collaborators

  • Fondazione Telethon

    lead OTHER

Principal Investigators

  • Fondazione Telethon · Fondazione Telethon

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Max Age
17 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2002-10-02
Primary Completion
2011-07-10
Completion
2019-06-19

Countries

  • Israel
  • Italy

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00598481 on ClinicalTrials.gov