Trial record 10 of 45 for:    "purine nucleoside phosphorylase deficiency" OR "Severe Combined Immunodeficiency"

Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001255
First received: November 3, 1999
Last updated: March 3, 2008
Last verified: July 2002
  Purpose

This study will monitor the long-term effects of gene therapy in patients with severe combined immunodeficiency disease (SCID) due to a deficiency in an enzyme called adenosine deaminase (ADA). It will also follow the course of disease in children who are not receiving gene therapy, but may have received enzyme replacement therapy with the drug PEG-ADA.

ADA is essential for the growth and proper functioning of infection-fighting white blood cells called T and B lymphocytes. Patients who lack this enzyme are, therefore, immune deficient and vulnerable to frequent infections. Injections of PEG-ADA may increase the number of immune cells and reduce infections, but this enzyme replacement therapy is not a definitive cure. In addition, patients may become resistant or allergic to the drug. Gene therapy, in which a normal ADA gene is inserted into the patient's cells, attempts to correcting the underlying cause of disease.

Patients with SCID due to ADA deficiency may be eligible for this study. Patients may or may not have received enzyme replacement therapy or gene transfer therapy, or both. Participants will have follow-up visits at the National Institutes of Health in Bethesda, Maryland, at least once a year for a physical examination, blood tests, and possibly the following additional procedures to evaluate immune function:

  1. Bone marrow sampling - A small amount of marrow from the hip bone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation.
  2. Injection of small amounts of fluids into the arm to study if the patient's lymphocytes respond normally.
  3. Administration of vaccination shots.
  4. Collection of white blood cells through apheresis - Whole blood is collected through a needle placed in an arm vein. The blood circulates through a machine that separates it into its components. The white cells are then removed, and the red cells, platelets and plasma are returned to the body, either through the same needle used to draw the blood or through a second needle placed in the other arm.
  5. Blood drawings to obtain and study the patient's lymphocytes.

Condition Intervention
Severe Combined Immunodeficiency
Drug: ADA PBSC
Drug: ADA Umbilical Cord Blood Cells
Drug: Transduced Lymphocytes

Study Type: Observational
Official Title: Treatment of Severe Combined Immunodeficiency Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency With Autologous Lymphocytes of CD34+ Cells Transduced With a Human ADA Gene: A Natural History Study

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 10
Study Start Date: September 1990
Estimated Study Completion Date: July 2002
Detailed Description:

The primary purpose of this study is to continue to provide clinical follow-up for ADA-deficient patients treated with gene therapy under the original protocol 90-HG-0195 (IND 3624) and its amendments (IND 4647 and IND 5056). The objectives are the long-term monitoring of the beneficial effects of gene therapy and continued surveillance of potential adverse effects associated with the gene transfer procedures.

No new subjects will be enrolled in this protocol.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

New patients will not be treated under protocol 90-HG-0195 as new and improved vectors and technologies have become available in the recent years.

New patients with ADA deficiency, however, may be enrolled in protocol 90-HG-0195 for clinical evaluation of their immune system and pre-treatment testing of transduction procedures.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00001255

Locations
United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00001255     History of Changes
Other Study ID Numbers: 900195, 90-HG-0195
Study First Received: November 3, 1999
Last Updated: March 3, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Retroviral Vector
Gene Therapy
PEG-ADA
Severe Combined Immunodeficiency (SCID)
Adenosine Deaminase Deficiency (ADA)

Additional relevant MeSH terms:
Severe Combined Immunodeficiency
Immunologic Deficiency Syndromes
Immune System Diseases
Infant, Newborn, Diseases
DNA Repair-Deficiency Disorders
Metabolic Diseases
Adenosine
Analgesics
Sensory System Agents
Peripheral Nervous System Agents
Physiological Effects of Drugs
Pharmacologic Actions
Central Nervous System Agents
Therapeutic Uses
Anti-Arrhythmia Agents
Cardiovascular Agents
Vasodilator Agents

ClinicalTrials.gov processed this record on April 22, 2014