NCT00006319

Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Status unknown Last updated 19 September 2024

What this trial tests

trial in Wiskott- Aldrich Syndrome in 266 participants. Status unknown.

Timeline

25 October 2000

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Status unknown
Study type	OBSERVATIONAL
Enrollment	266
Start date	25 October 2000
Sites	1 location across United States

Conditions studied

• Wiskott- Aldrich Syndrome — all drugs for Wiskott- Aldrich Syndrome →
• ADA Deficient SCID — all drugs for ADA Deficient SCID →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

3 and older, any sex, with Wiskott- Aldrich Syndrome or ADA Deficient SCID. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.

Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:

1. Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study
2. Urine and saliva tests for biochemical studies
3. Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.
4. Skin and lymph node biopsies for tissue and DNA studies
5. Chest X-ray, CT scans, or both to look for cancer or various infections.
6. Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.
7. Dental, skin and eye examinations.
8. Treatment with intravenous immunoglobulins or antibodies to prevent infections.
9. Apheresis for collecting white blood cells to study cell function. In this procedure, 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 or through a second needle placed in the other arm.
10. Bone marrow sampling to study the disease. A small amount of marrow from the hipbone is drawn (aspirated) through a needle. The procedure can be done under local anesthesia or light sedation.
11. Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells).

Information gained from this study may provide a better understanding of primary immunodeficiencies, leading to better diagnosis and treatment. In addition, study participants may receive medical and genetic counseling and may be found eligible for other NIH studies on these diseases.

Publications & conference data

5 peer-reviewed publications reference this trial (live from Europe PMC):

1. FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.
   Lexmond WS, Goettel JA, Lyons JJ, Jacobse J, et al · · 2016 · cited 53× · PMID 27643438 · DOI 10.1172/jci85129
2. Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.
   Kesserwan C, Sokolic R, Cowen EW, Garabedian E, et al · · 2012 · cited 43× · PMID 22153773 · DOI 10.1016/j.jaci.2011.10.028
3. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.
   Sokolic R, Maric I, Kesserwan C, Garabedian E, et al · · 2011 · cited 28× · PMID 21725047 · DOI 10.1182/blood-2011-01-329359
4. Foamy virus vector-mediated gene correction of a mouse model of Wiskott-Aldrich syndrome.
   Uchiyama T, Adriani M, Jagadeesh GJ, Paine A, et al · · 2012 · cited 20× · PMID 22215016 · DOI 10.1038/mt.2011.282
5. Severe combined immunodeficiency: improved survival leading to detection of underlying liver disease.
   Vittal A, Abdul Majeed N, Garabedian E, Marko J, et al · · 2023 · PMID 37208598 · DOI 10.1186/s12876-023-02782-8