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Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders

Wiskott-Aldrich Syndrome Clinical Trial

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.

Clinical Trial 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. ;

Study Design

Primary Purpose: Screening

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT00004341
Study type Observational
Source Office of Rare Diseases (ORD)
Contact
Status Active, not recruiting
Phase N/A
Start date July 1995
View Details
See also
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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