NCT00004341

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.

Trial Health

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Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 1, 1995

Completed
4.3 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

June 24, 2005

Status Verified

October 1, 2003

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

X-Linked AgammaglobulinemiaX-Linked Hyper IgM SyndromeWiskott-Aldrich SyndromeLeukocyte Adhesion Deficiency Syndrome

Keywords

Wiskott-Aldrich syndromeX-linked agammaglobulinemiaX-linked hyper IgM syndromegenetic diseases and dysmorphic syndromesimmunologic disorders and infectious disordersleukocyte adhesion deficiency syndromeprimary immunodeficiency diseaserare disease

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
PROTOCOL ENTRY CRITERIA: Primary immunodeficiency disease, e.g.: Leukocyte adhesion deficiency syndrome Wiskott-Aldrich syndrome X-linked agammaglobulinemia X-linked hyper IgM syndrome

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

University of Washington School of Medicine

Seattle, Washington, 98195, United States

Location

Related 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.

    PMID: 9040941BACKGROUND

  • 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.

    PMID: 9326235BACKGROUND

MeSH Terms

Conditions

Bruton type agammaglobulinemiaHyper-IgM Immunodeficiency Syndrome, Type 1Wiskott-Aldrich SyndromeLeukocyte-Adhesion Deficiency SyndromeGenetic Diseases, InbornImmune System DiseasesCommunicable DiseasesPrimary Immunodeficiency DiseasesRare Diseases

Condition Hierarchy (Ancestors)

Hyper-IgM Immunodeficiency SyndromeDysgammaglobulinemiaBlood Protein DisordersHematologic DiseasesHemic and Lymphatic DiseasesGenetic Diseases, X-LinkedCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesImmunologic Deficiency SyndromesBlood Coagulation Disorders, InheritedBlood Coagulation DisordersLymphopeniaLeukopeniaCytopeniaHemorrhagic DisordersLeukocyte DisordersInfectionsDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Study Officials

  • Hans D. Ochs

    University of Washington

    STUDY CHAIR

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

July 1, 1995

Last Updated

June 24, 2005

Record last verified: 2003-10

Locations

US(1)