<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/NCT02231983</url>
  </required_header>
  <id_info>
    <org_study_id>SCID-20140901</org_study_id>
    <nct_id>NCT02231983</nct_id>
  </id_info>
  <brief_title>Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China</brief_title>
  <official_title>Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China</official_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>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is&#xD;
      poorly characterized in mainland China. We meant to explore the patients with SCID refered to&#xD;
      our hospital and summarize their clinical manifestations and genetic features.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Diagnostic criteria were based on recommendations by the Pan-American Group for&#xD;
      Immunodeficiency and the European Society for Immunodeficiencies, which included failure to&#xD;
      thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis&#xD;
      pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG)&#xD;
      infection during the first 2 to 7 months of life. In addition, patients included in the study&#xD;
      were &lt;2 years of age, with either transplacentally acquired maternal T cells or &lt;20 % CD3+ T&#xD;
      cells, the absolute lymphocyte count (ALC) &lt;3000/mm3. Exclusion criteria include HIV&#xD;
      infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair&#xD;
      hypoplasia, PNP deficiency and MHC class II deficiency.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Not yet recruiting</last_known_status>
  <start_date>September 2014</start_date>
  <completion_date type="Anticipated">September 2016</completion_date>
  <primary_completion_date type="Anticipated">September 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>50 Months</target_duration>
  <primary_outcome>
    <measure>times of infections</measure>
    <time_frame>2 years</time_frame>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">50</enrollment>
  <condition>Severe Combined Immunodeficiency</condition>
  <arm_group>
    <arm_group_label>Severe Combined Immunodeficiency</arm_group_label>
    <description>Case histories were analyzed to grasp important characteristics of the diseases. Distribution of lymphocyte subsets from peripheral blood were examined by flow cytometry. Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>gene sequencing</intervention_name>
    <description>Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.</description>
    <arm_group_label>Severe Combined Immunodeficiency</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        SCID patients&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Diagnostic criteria were based on recommendations by the Pan-American Group for&#xD;
        Immunodeficiency and the European Society for Immunodeficiencies, which included failure to&#xD;
        thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis&#xD;
        pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG)&#xD;
        infection during the first 2 to 7 months of life.&#xD;
&#xD;
        Exclusion Criteria: HIV infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency,&#xD;
        Cartilage hair hypoplasia, PNP deficiency and MHC class II deficiency.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>2 Months</minimum_age>
    <maximum_age>2 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Ying-Ying Jin</last_name>
    <email>jinjin301@163.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>September 1, 2014</study_first_submitted>
  <study_first_submitted_qc>September 1, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 4, 2014</study_first_posted>
  <last_update_submitted>September 1, 2014</last_update_submitted>
  <last_update_submitted_qc>September 1, 2014</last_update_submitted_qc>
  <last_update_posted type="Estimate">September 4, 2014</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Clinical Characteristics</keyword>
  <keyword>Genetic Profiles</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Severe Combined Immunodeficiency</mesh_term>
    <mesh_term>Immunologic Deficiency Syndromes</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/NCT02231983
org study id: SCID-20140901
nct id: NCT02231983
lead sponsor: 
has dmc: No
Severe combined immunodeficiency (SCID), a rare primary immunodeficiency dieases (PID), is
      poorly characterized in mainland China. We meant to explore the patients with SCID refered to
      our hospital and summarize their clinical manifestations and genetic features.
Diagnostic criteria were based on recommendations by the Pan-American Group for
      Immunodeficiency and the European Society for Immunodeficiencies, which included failure to
      thrive, persistent diarrhea, respiratory symptoms, and oral candidiasis, or Pneumocystis
      pneumonia, severe bacterial infections, and disseminated Bacillus Calmette-Guérin (BCG)
      infection during the first 2 to 7 months of life. In addition, patients included in the study
      were <2 years of age, with either transplacentally acquired maternal T cells or <20 % CD3+ T
      cells, the absolute lymphocyte count (ALC) <3000/mm3. Exclusion criteria include HIV
      infection, congenital rubella, DiGeorge syndrome, Zap70 deficiency, Cartilage hair
      hypoplasia, PNP deficiency and MHC class II deficiency.
observational model: Cohort
time perspective: Prospective
measure: times of infections
time frame: 2 years
arm group label: Severe Combined Immunodeficiency
description: Case histories were analyzed to grasp important characteristics of the diseases. Distribution of lymphocyte subsets from peripheral blood were examined by flow cytometry. Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
intervention type: Genetic
intervention name: gene sequencing
description: Amplify and identify exons from gene IL-2RG by PCR and agarose gel electrophoresis, and then followed by gene sequencing.
arm group label: Severe Combined Immunodeficiency
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 2 Months
maximum age: 2 Years
healthy volunteers: No
last name: Ying-Ying Jin
email: jinjin301@163.com
facility: 
country: China
responsible party type: Sponsor
mesh term: Severe Combined Immunodeficiency
mesh term: Immunologic Deficiency Syndromes