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NCT00004341 Clinical Trial

Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Wiskott-Aldrich Syndrome Clinical Trial

Clinical Trial Details — Status: Active, not recruiting

Administrative data
NCT number NCT00004341
Other study ID # 199/11900
Secondary ID UW-533
Status Active, not recruiting
Phase N/A
First received October 18, 1999
Last updated June 23, 2005
Start date July 1995

Study information
Verified date October 2003
Source Office of Rare Diseases (ORD)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial 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.

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.

Recruitment information / eligibility
Status Active, not recruiting
Enrollment 0
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility PROTOCOL ENTRY CRITERIA:

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

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

Locations
Country Name City State
United States University of Washington School of Medicine Seattle Washington

Sponsors (2)
Lead Sponsor Collaborator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) University of Washington

Country where clinical trial is conducted

United States, 

References & Publications (2)

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. — View 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. — View Citation

See also
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Recruiting NCT04371939 - Efficacy and Safety of Romiplostim Versus Eltrombopag in the Treatment of Thrombocytopenia in Patients With Wiskott-Aldrich Syndrome Phase 2
Completed NCT01347346 - Gene Therapy for WAS Phase 1/Phase 2
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Recruiting NCT01821781 - Immune Disorder HSCT Protocol Phase 2
Completed NCT01347242 - Gene Therapy for Wiskott-Aldrich Syndrome (WAS) Phase 1/Phase 2
Completed NCT01289847 - A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Phase 4
Terminated NCT00006054 - Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies N/A
Enrolling by invitation NCT03198195 - Post-transplant Cyclophosphamide in Wiskott-Aldrich Syndrome N/A
Recruiting NCT03019809 - A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients Phase 2
Terminated NCT00909363 - Thrombocytopenia and Bleeding in Wiskott-Aldrich Syndrome (WAS) Patients Phase 2
Enrolling by invitation NCT01852370 - Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Phase 1/Phase 2
Completed NCT03513328 - Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Phase 1/Phase 2
Active, not recruiting NCT01410825 - Pilot and Feasibility Study of Hematopoietic Stem Cell Gene Transfer for the Wiskott-Aldrich Syndrome Phase 1/Phase 2
Completed NCT03399461 - Targeted Literature Review and Subject Interviews in Wiskott-Aldrich Syndrome (WAS)
Active, not recruiting NCT03837483 - A Clinical Study to Evaluate the Use of a Cryopreserved Formulation of OTL-103 in Subjects With Wiskott-Aldrich Syndrome Phase 3