Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
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|ClinicalTrials.gov Identifier: NCT00004341|
Recruitment Status : Unknown
Verified October 2003 by Office of Rare Diseases (ORD).
Recruitment status was: Active, not recruiting
First Posted : October 19, 1999
Last Update Posted : June 24, 2005
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 or disease|
|X-Linked Agammaglobulinemia X-Linked Hyper IgM Syndrome Wiskott-Aldrich Syndrome Leukocyte Adhesion Deficiency Syndrome|
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.
|Study Type :||Observational|
|Study Start Date :||July 1995|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00004341
|United States, Washington|
|University of Washington School of Medicine|
|Seattle, Washington, United States, 98195|
|Study Chair:||Hans D. Ochs||University of Washington|