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| Sponsors and Collaborators: |
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) University of Washington |
| Information provided by: | Office of Rare Diseases (ORD) |
| ClinicalTrials.gov Identifier: | NCT00004341 |
Purpose
OBJECTIVES: I. Identify the molecular defects responsible for primary immunodeficiency disorders.
II. Explore the mutations within each syndrome to better understand the genetics of these disorders.
III. Study the function of the Wiskott-Aldrich syndrome proteins (WASP). IV. Design methods to identify carriers and for prenatal diagnosis. V. Explore new avenues for therapy.
| Condition |
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X-Linked Agammaglobulinemia X-Linked Hyper IgM Syndrome Wiskott-Aldrich Syndrome Leukocyte Adhesion Deficiency Syndrome |
| Genetics Home Reference related topics: | aceruloplasminemia hemophilia L1 syndrome thrombotic thrombocytopenic purpura X-linked agammaglobulinemia X-linked hyper IgM syndrome |
| MedlinePlus related topics: | Adhesions |
| Study Type: | Observational |
| Study Design: | Screening |
| Study Start Date: | July 1995 |
PROTOCOL OUTLINE: Patients are studied systematically to determine the extent of their immune deficiency and to confirm a specific diagnosis. Patients with a known immunodeficiency syndrome are studied in detail to identify the gene mutation, to assess the effect of the mutation on the gene product, and to establish cell lines for further in vitro assessment of the genetic defect. The function of Wiskott-Aldrich syndrome proteins (WASP) in hematopoietic cells is studied.
Family members of patients with X-linked disorders are studied to identify carrier females.
Eligibility
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
PROTOCOL ENTRY CRITERIA:
Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
Contacts and Locations| United States, Washington | |||||
| University of Washington School of Medicine | |||||
| Seattle, Washington, United States, 98195 | |||||
| Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) |
| University of Washington |
| Study Chair: | Hans D. Ochs | University of Washington |
More Information
| Study ID Numbers: | 199/11900, UW-533 |
| First Received: | October 18, 1999 |
| Last Updated: | June 23, 2005 |
| ClinicalTrials.gov Identifier: | NCT00004341 |
| Health Authority: | United States: Federal Government |
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