Back to resultsStudy of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
Primary Purpose
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome
Status
Unknown status
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
About this trial
This is an observational trial for X-Linked Agammaglobulinemia focused on measuring 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
Eligibility Criteria
PROTOCOL ENTRY CRITERIA: Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
Sites / Locations
- University of Washington School of Medicine
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
NCT ID
NCT00004341
First Posted
October 18, 1999
Last Updated
June 23, 2005
Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators
University of Washington
1. Study Identification
Unique Protocol Identification Number
NCT00004341
Brief Title
Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
Study Type
Observational
2. Study Status
Record Verification Date
October 2003
Overall Recruitment Status
Unknown status
Study Start Date
July 1995 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Name of the Sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Collaborators
University of Washington
4. Oversight
5. Study Description
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.
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
X-Linked Agammaglobulinemia, X-Linked Hyper IgM Syndrome, Wiskott-Aldrich Syndrome, Leukocyte Adhesion Deficiency Syndrome
Keywords
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
7. Study Design
10. Eligibility
Sex
All
Minimum Age & Unit of Time
0 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
PROTOCOL ENTRY CRITERIA:
Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Hans D. Ochs
Organizational Affiliation
University of Washington
Official's Role
Study Chair
Facility Information:
Facility Name
University of Washington School of Medicine
City
Seattle
State/Province
Washington
ZIP/Postal Code
98195
Country
United States
12. IPD Sharing Statement
Citations:
PubMed Identifier
9040941
Citation
Miki H, Nonoyama S, Zhu Q, Aruffo A, Ochs HD, Takenawa T. Tyrosine kinase signaling regulates Wiskott-Aldrich syndrome protein function, which is essential for megakaryocyte differentiation. Cell Growth Differ. 1997 Feb;8(2):195-202.
Results Reference
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PubMed Identifier
9326235
Citation
Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997 Oct 1;90(7):2680-9.
Results Reference
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Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders
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