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

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Brief Title

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

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

Brief Summary

      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.

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.

Study Type



Severe Combined Immunodeficiency




* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

September 1990

Completion Date

July 2002

Eligibility 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




N/A - N/A

Accepts Healthy Volunteers



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Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Secondary IDs


Study Sponsor

National Human Genome Research Institute (NHGRI)

Study Sponsor

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Verification Date

July 2002