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Sponsors and Collaborators: |
IRCCS San Raffaele Fondazione Telethon |
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Information provided by: | IRCCS San Raffaele |
ClinicalTrials.gov Identifier: | NCT00598481 |
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 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 CD34+ 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.
Condition | Intervention | Phase |
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Severe Combined Immunodeficiency |
Genetic: Gene transduced CD34+ cells |
Phase I Phase II |
Study Type: | Interventional |
Study Design: | Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Safety/Efficacy Study |
Official Title: | ADA Gene Transfer Into Hematopoietic Stem/Progenitor Cells for the Treatment of ADA-SCID |
Estimated Enrollment: | 10 |
Study Start Date: | October 2002 |
Arms | Assigned Interventions |
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CD34+ cells: Experimental |
Genetic: Gene transduced CD34+ cells
infusion of autologous CD34+ cells transduced with retroviral vector encoding ADA after non-myeloablative conditioning with Busulphan
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The safety of the study will be evaluated by description of all adverse events and adverse drug reactions.
The study is aimed at reaching the minimum sample size of ten patients.
Ages Eligible for Study: | up to 17 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
Exclusion Criteria:
Italy, MI | |
Pediatric Clinical Research Unit, HSR-TIGET | |
Milano, MI, Italy, 20132 |
Principal Investigator: | Maria Grazia Roncarolo, Director | IRCCS San Raffaele - Telethon Institute for Gene Therapy |
Principal Investigator: | Alessandro Aiuti | IRCCS San Raffaele - Telethon Institute for Gene Therapy |
Responsible Party: | HSR-TIGET, IRCCS San Raffaele ( Maria Grazia Roncarolo ) |
Study ID Numbers: | 15386-PRE21 |
Study First Received: | January 10, 2008 |
Last Updated: | January 28, 2009 |
ClinicalTrials.gov Identifier: | NCT00598481 History of Changes |
Health Authority: | Italy: National Institute of Health |
Adenosine deaminase retroviral vector gene therapy SCID |
Metabolic Diseases Severe Combined Immunodeficiency Busulfan Infant, Newborn, Diseases |
Adenosine Metabolic Disorder Immunologic Deficiency Syndromes |
Metabolic Diseases Immune System Diseases Severe Combined Immunodeficiency |
DNA Repair-Deficiency Disorders Infant, Newborn, Diseases Immunologic Deficiency Syndromes |