Molecular and Clinical Studies of Primary Immunodeficiency Diseases

NCT00006319 | Unknown

• 2 other identifiers: 00020900-HG-0209
• Study Type: observational
• Target: 266
• Locations: 1 country
• Sites: 1

Brief Summary

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. 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. 2.Urine and saliva tests for biochemical studies
3. 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. 4.Skin and lymph node biopsies for tissue and DNA studies
5. 5.Chest X-ray, CT scans, or both to look for cancer or various infections.
6. 6.Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.
7. 7.Dental, skin and eye examinations.
8. 8.Treatment with intravenous immunoglobulins or antibodies to prevent infections.
9. 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. 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. 11.Placental and umbilical cord blood studies, if cord blood is available, to study stem cells (cells that form blood cells).

Conditions

Wiskott- Aldrich Syndrome; ADA Deficient SCID

Keywords

X-Linked Agammagloblinemia; Wiskott-Aldrich Syndrome; Jak-3 SCID; X-Linked SCID; X-Linked Hyper-IgM Syndrome; Natural History

Outcome Measures

Primary Outcomes (1)

• To broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.

  to broaden our current knowledge of the molecular basis, clinical presentation, evolution and outcome of primary immunodeficiencydiseases.

  Ongoing

Study Arms (2)

ADA deficient SCID

Patients with ADA deficient SCID

Wiskott-Aldrich syndrome

Male patients with Wiskott-Aldrich syndrome

Eligibility Criteria

• Age: 3 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Male patients with Wiskott-Aldrich syndrome and patients with ADA deficient SCID@@@

You may qualify if:

• receive blood samples.

You may not qualify if:

• Inability of the subject or the subject s parent/guardian to provide informed consent.
• Patients infected with the Human Immunodeficiency Virus before enrollment.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (1)

• Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1.

  PMID: 21725047 DERIVED

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Wiskott-Aldrich Syndrome; X-Linked Combined Immunodeficiency Diseases; Hyper-IgM Immunodeficiency Syndrome

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Lymphopenia; Leukopenia; Cytopenia; Hemorrhagic Disorders; Leukocyte Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, X-Linked; Primary Immunodeficiency Diseases; Immunologic Deficiency Syndromes; Immune System Diseases; Severe Combined Immunodeficiency; Infant, Newborn, Diseases; Dysgammaglobulinemia; Blood Protein Disorders

Study Officials

• Elizabeth K Garabedian, R.N.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 30, 2000
• First Posted: October 2, 2000
• Study Start: October 25, 2000
• Last Updated: September 19, 2024

Record last verified: 2023-10-13

Locations

US (1)