<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02234791</url>
  </required_header>
  <id_info>
    <org_study_id>BTK-20140828</org_study_id>
    <nct_id>NCT02234791</nct_id>
  </id_info>
  <brief_title>Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia</brief_title>
  <sponsors>
    <lead_sponsor>
      <agency>Shanghai Children's Medical Center</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Shanghai Children's Medical Center</source>
  <brief_summary>
    <textblock>
      X-linked agammaglobulinemia (XLA) is a humoral primary immunodeficiency in which affected&#xD;
      patients have very low levels of peripheral B cells and a profound deficiency of all&#xD;
      immunoglobulin isotypes. Mutations in the gene encoding for Bruton's tyrosine kinase (Btk)&#xD;
      are responsible for most of the gammaglobulinemia.&#xD;
&#xD;
      We tend to investigate the gene mutation and clinical features of Chinese X-linked&#xD;
      agammaglobulinemia (XLA) patients, and also examined the relationship between specific Btk&#xD;
      gene mutations and severity of clinical presentation.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date>September 2014</start_date>
  <primary_completion_date type="Anticipated">December 2016</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <target_duration>2 Years</target_duration>
  <primary_outcome>
    <measure>times of pneumonia</measure>
    <time_frame>2 years</time_frame>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Agammaglobulinemia, BTK</condition>
  <arm_group>
    <arm_group_label>gene mutation</arm_group_label>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        XLA patients&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Clinical diagnosis of XLA A.male patients with less than 2% CD19-positive B cells;&#xD;
             B.recurrent bacterial infection; C.decreased or absent immunoglobulins in serum&#xD;
&#xD;
        Exclusion Criteria for all groups:&#xD;
&#xD;
          -  Presence of other primary immunodeficiency syndromes that do not meet the clinical and&#xD;
             laboratory criteria for XLA&#xD;
      </textblock>
    </criteria>
    <gender>Male</gender>
    <minimum_age>1 Month</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>xiafang chen</last_name>
    <phone>38626161</phone>
    <email>chxf_1984@hotmail.com</email>
  </overall_contact>
  <location>
    <facility>
      <name>Shanghai Children'S Medical Center</name>
      <address>
        <city>Shanghai</city>
        <state>Shanghai</state>
        <zip>200127</zip>
        <country>China</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>China</country>
  </location_countries>
  <verification_date>September 2014</verification_date>
  <study_first_submitted>August 29, 2014</study_first_submitted>
  <study_first_submitted_qc>September 4, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 9, 2014</study_first_posted>
  <last_update_submitted>September 4, 2014</last_update_submitted>
  <last_update_submitted_qc>September 4, 2014</last_update_submitted_qc>
  <last_update_posted type="Estimate">September 9, 2014</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Shanghai Children's Medical Center</investigator_affiliation>
    <investigator_full_name>Chen Tongxin</investigator_full_name>
    <investigator_title>Director of Allergy and Immunology department, Shanghai Children's Medical Center</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Agammaglobulinemia</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02234791
org study id: BTK-20140828
nct id: NCT02234791
lead sponsor: 
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.
observational model: Cohort
time perspective: Prospective
measure: times of pneumonia
time frame: 2 years
arm group label: gene mutation
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Male
minimum age: 1 Month
maximum age: 18 Years
healthy volunteers: No
last name: xiafang chen
phone: 38626161
email: chxf_1984@hotmail.com
facility: 
country: China
responsible party type: Principal Investigator
investigator affiliation: Shanghai Children's Medical Center
investigator full name: Chen Tongxin
investigator title: Director of Allergy and Immunology department, Shanghai Children's Medical Center
mesh term: Agammaglobulinemia