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

September 4, 2014 updated by: Chen Tongxin, Shanghai Children's Medical Center

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.

Study Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • China
    • Shanghai
      • Shanghai, Shanghai, China, 200127
        • Shanghai Children's Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 month to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

XLA patients

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
gene mutation

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
times of pneumonia
Time Frame: 2 years
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Shanghai Children's Medical Center

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2014

Primary Completion (Anticipated)

December 1, 2016

Study Registration Dates

First Submitted

August 29, 2014

First Submitted That Met QC Criteria

September 4, 2014

First Posted (Estimate)

September 9, 2014

Study Record Updates

Last Update Posted (Estimate)

September 9, 2014

Last Update Submitted That Met QC Criteria

September 4, 2014

Last Verified

September 1, 2014

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BTK-20140828

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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