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Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. 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
University of Washington
Information provided by:
Office of Rare Diseases (ORD)

Brief Summary:

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

Detailed Description:

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.

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Study Type : Observational
Primary Purpose: Screening
Study Start Date : July 1995

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome

Information from the National Library of Medicine

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 identifier (NCT number): NCT00004341

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United States, Washington
University of Washington School of Medicine
Seattle, Washington, United States, 98195
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
University of Washington
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Study Chair: Hans D. Ochs University of Washington

Layout table for additonal information Identifier: NCT00004341     History of Changes
Other Study ID Numbers: 199/11900
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: October 2003

Keywords provided by Office of Rare Diseases (ORD):
Wiskott-Aldrich syndrome
X-linked agammaglobulinemia
X-linked hyper IgM syndrome
genetic diseases and dysmorphic syndromes
immunologic disorders and infectious disorders
leukocyte adhesion deficiency syndrome
primary immunodeficiency disease
rare disease

Additional relevant MeSH terms:
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Tissue Adhesions
Wiskott-Aldrich Syndrome
Hyper-IgM Immunodeficiency Syndrome
Hyper-IgM Immunodeficiency Syndrome, Type 1
Genetic Diseases, X-Linked
Leukocyte-Adhesion Deficiency Syndrome
Pathologic Processes
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Hemorrhagic Disorders
Leukocyte Disorders
Genetic Diseases, Inborn
Immunologic Deficiency Syndromes
Immune System Diseases
Blood Protein Disorders
Lymphoproliferative Disorders
Lymphatic Diseases