<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/NCT03009188</url>
  </required_header>
  <id_info>
    <org_study_id>AierEYC</org_study_id>
    <nct_id>NCT03009188</nct_id>
  </id_info>
  <brief_title>Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom</brief_title>
  <official_title>Genetic Findings in a Chinese Family With Axenfeld-Rieger Syndrom</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Aier Eye Hospital, Changsha</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Aier Eye Hospital, Changsha</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by&#xD;
      anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead&#xD;
      box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have&#xD;
      been demonstrated to cause ARS. In this study, we performed complete ophthalmologic&#xD;
      examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Two genetions of a Chinese family with ARS were recruited to Aier Eye Hospital of Changsha.&#xD;
&#xD;
      Clinical evaluations: We performed full ophthalmologic examinations of all subjects,&#xD;
      including: visual acuity, intraocular pressure measurements (Goldman), slit lamp, anterior&#xD;
      segment photography, visual field test (Humphrey 750, Carl Zeiss, Germany), Anterior segment&#xD;
      OCT (Carl Zeiss, Germany). If the refractive medium is clear, we also performed funduscopy,&#xD;
      gonioscopic and retinal nerve fiber layer (RNFL) thickness measurements (Carl Zeiss,&#xD;
      Germany).&#xD;
&#xD;
      Mutation analysis: About 2 ml of venous blood sampled from each subject and collected in&#xD;
      Vacutainer tubes (Sanjiu Medical Technology Co., Ltd., Liuyang, China) containing EDTA.&#xD;
      Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood (Life&#xD;
      Technologies), All coding exons, with flanking intronic regions, of FOXC1 and PITX2 were&#xD;
      amplified using PCR with primers. The amplifed DNA was purifed by agarose gel electrophoresis&#xD;
      and sequenced on a 3730/3700xl automated DNA sequencer (Applied Biosystems).&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>July 2016</start_date>
  <completion_date type="Actual">December 2016</completion_date>
  <primary_completion_date type="Actual">December 2016</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
  </study_design_info>
  <primary_outcome>
    <measure>Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom</measure>
    <time_frame>Dec 1, 2016</time_frame>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">9</enrollment>
  <condition>Genetic Findings in a Chinese Family With ARS</condition>
  <arm_group>
    <arm_group_label>Pedigree of the family with ARS</arm_group_label>
    <description>Nine members of the same family with ARS</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Nine members of two genetions of a Chinese family with ARS&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  a Chinese family with ARS&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        -&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <verification_date>December 2016</verification_date>
  <study_first_submitted>December 31, 2016</study_first_submitted>
  <study_first_submitted_qc>December 31, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">January 4, 2017</study_first_posted>
  <last_update_submitted>December 31, 2016</last_update_submitted>
  <last_update_submitted_qc>December 31, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">January 4, 2017</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Aier Eye Hospital, Changsha</investigator_affiliation>
    <investigator_full_name>Kuanshu Li</investigator_full_name>
    <investigator_title>MD-candidate</investigator_title>
  </responsible_party>
  <keyword>Axenfeld-Rieger syndrom, genetic findings</keyword>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- 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/NCT03009188
org study id: AierEYC
nct id: NCT03009188
lead sponsor: 
has dmc: Yes
Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder, characterized by
      anterior segment abnormalities and systemic abnormalities. To date,two major genes, forkhead
      box C1 (FOXC1) on chromosome 6p25 and pituitary homeobox 2 (PITX2) on chromosome 4q25, have
      been demonstrated to cause ARS. In this study, we performed complete ophthalmologic
      examinations and analysis of FOXC1 and PITX2 of a Chinese family with ARS.
Two genetions of a Chinese family with ARS were recruited to Aier Eye Hospital of Changsha.

      Clinical evaluations: We performed full ophthalmologic examinations of all subjects,
      including: visual acuity, intraocular pressure measurements (Goldman), slit lamp, anterior
      segment photography, visual field test (Humphrey 750, Carl Zeiss, Germany), Anterior segment
      OCT (Carl Zeiss, Germany). If the refractive medium is clear, we also performed funduscopy,
      gonioscopic and retinal nerve fiber layer (RNFL) thickness measurements (Carl Zeiss,
      Germany).

      Mutation analysis: About 2 ml of venous blood sampled from each subject and collected in
      Vacutainer tubes (Sanjiu Medical Technology Co., Ltd., Liuyang, China) containing EDTA.
      Genomic DNA was extracted from each blood using a genomic DNA mini kit for blood (Life
      Technologies), All coding exons, with flanking intronic regions, of FOXC1 and PITX2 were
      amplified using PCR with primers. The amplifed DNA was purifed by agarose gel electrophoresis
      and sequenced on a 3730/3700xl automated DNA sequencer (Applied Biosystems).
observational model: Family-Based
measure: Novel genetic findings in a Chinese family with Axenfeld-Rieger syndrom
time frame: Dec 1, 2016
arm group label: Pedigree of the family with ARS
description: Nine members of the same family with ARS
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
responsible party type: Principal Investigator
investigator affiliation: Aier Eye Hospital, Changsha
investigator full name: Kuanshu Li
investigator title: MD-candidate
sharing ipd: No