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

NCT02234791 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2014-09-09

No results posted yet for this study

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.

Conditions

  • Agammaglobulinemia, BTK

Sponsors & Collaborators

  • Shanghai Children's Medical Center

    lead OTHER

Eligibility

Min Age
1 Month
Max Age
18 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-30
Primary Completion
2016-12-31

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02234791 on ClinicalTrials.gov