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Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia

Sponsor
Shanghai Children's Medical Center (Other)
Overall Status
Unknown status
CT.gov ID
NCT02234791
Collaborator
(none)
100
Enrollment
1
Location

Study Details

Study Description

Brief Summary

X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected patients have very low levels of peripheral B cells and a profound deficiency of all immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk) are responsible for most of the gammaglobulinemia.

We tend to investigate the gene mutation and clinical features of Chinese X-linked agammaglobulinemia (XLA) patients, and also examined the relationship between specific Btk gene mutations and severity of clinical presentation.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational [Patient Registry]
    Anticipated Enrollment :
    100 participants
    Observational Model:
    Cohort
    Time Perspective:
    Prospective
    Study Start Date :
    Sep 1, 2014
    Anticipated Primary Completion Date :
    Dec 1, 2016

    Arms and Interventions

    Arm Intervention/Treatment
    gene mutation

    Outcome Measures

    Primary Outcome Measures

    1. times of pneumonia [2 years]

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    1 Month to 18 Years
    Sexes Eligible for Study:
    Male
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • Clinical diagnosis of XLA A.male patients with less than 2% CD19-positive B cells; B.recurrent bacterial infection; C.decreased or absent immunoglobulins in serum
    Exclusion Criteria for all groups:
    • Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for XLA

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Shanghai Children'S Medical Center Shanghai Shanghai China 200127

    Sponsors and Collaborators

    • Shanghai Children's Medical Center

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Chen Tongxin, Director of Allergy and Immunology department, Shanghai Children's Medical Center, Shanghai Children's Medical Center
    ClinicalTrials.gov Identifier:
    NCT02234791
    Other Study ID Numbers:
    • BTK-20140828
    First Posted:
    Sep 9, 2014
    Last Update Posted:
    Sep 9, 2014
    Last Verified:
    Sep 1, 2014
    Additional relevant MeSH terms:
    Agammaglobulinemia

    Study Results

    No Results Posted as of Sep 9, 2014