xml: <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/NCT05971836</url>
    </required_header>
    <id_info>
      <org_study_id>2020P000762</org_study_id>
      <nct_id>NCT05971836</nct_id>
    </id_info>
    <brief_title>The Molecular Basis of Inherited Reproductive Disorders</brief_title>
    <official_title>The Molecular Basis of Inherited Reproductive Disorders</official_title>
    <sponsors>
      <lead_sponsor>
        <agency>Stephanie B. Seminara, MD</agency>
        <agency_class>Other</agency_class>
      </lead_sponsor>
    </sponsors>
    <source>Massachusetts General Hospital</source>
    <oversight_info>
      <has_dmc>No</has_dmc>
      <is_fda_regulated_drug>No</is_fda_regulated_drug>
      <is_fda_regulated_device>No</is_fda_regulated_device>
    </oversight_info>
    <brief_summary>
      <textblock>
        The goal of this study is to learn more about the genes that control puberty and reproduction&#xD;
        in humans.&#xD;
      </textblock>
    </brief_summary>
    <detailed_description>
      <textblock>
        All study subjects will undergo the same activities. Subjects will provide up to five tubes&#xD;
        of blood for genetic analysis, complete a smell test, and answer questions about their health&#xD;
        and family history.&#xD;
      </textblock>
    </detailed_description>
    <overall_status>Recruiting</overall_status>
    <start_date type="Actual">January 21, 2021</start_date>
    <completion_date type="Anticipated">March 2026</completion_date>
    <primary_completion_date type="Anticipated">March 2026</primary_completion_date>
    <study_type>Observational</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>
    <primary_outcome>
      <measure>Genetic variation</measure>
      <time_frame>Day 1</time_frame>
      <description>Identification of one or more genetic variations related to reproductive disorders</description>
    </primary_outcome>
    <number_of_groups>1</number_of_groups>
    <enrollment type="Anticipated">600</enrollment>
    <condition>Hypogonadotropic Hypogonadism</condition>
    <condition>Reproductive Disorder</condition>
    <condition>Kallmann Syndrome</condition>
    <condition>Delayed Puberty</condition>
    <arm_group>
      <arm_group_label>Subjects with Reproductive Disorders</arm_group_label>
      <description>Individuals with reproductive disorders and their affected and unaffected family members</description>
    </arm_group>
    <eligibility>
      <study_pop>
        <textblock>
          Individuals with reproductive disorders and their affected and unaffected family members&#xD;
        </textblock>
      </study_pop>
      <sampling_method>Non-Probability Sample</sampling_method>
      <criteria>
        <textblock>
          Participants must belong to one of the following categories:&#xD;
  &#xD;
            -  Failure to go through a normal, age-appropriate, spontaneous puberty and low sex&#xD;
               steroid levels in the setting of low/normal gonadotropins or,&#xD;
  &#xD;
            -  Abnormally early development of puberty or,&#xD;
  &#xD;
            -  Normal puberty with subsequent development of low gonadotropin levels or,&#xD;
  &#xD;
            -  Evidence of a reproductive disorder with high gonadotropin levels or,&#xD;
  &#xD;
            -  Pre-pubertal individuals with features suggestive of hypogonadotropic hypogonadism or,&#xD;
  &#xD;
            -  Affected and unaffected family members of individuals that fit criteria above&#xD;
        </textblock>
      </criteria>
      <gender>All</gender>
      <minimum_age>1 Year</minimum_age>
      <maximum_age>N/A</maximum_age>
      <healthy_volunteers>No</healthy_volunteers>
    </eligibility>
    <overall_official>
      <last_name>Stephanie Seminara, MD</last_name>
      <role>Principal Investigator</role>
      <affiliation>Massachusetts General Hospital</affiliation>
    </overall_official>
    <overall_contact>
      <last_name>Study Coordinator</last_name>
      <phone>617-643-2308</phone>
      <email>reproendogenetics@partners.org</email>
    </overall_contact>
    <location>
      <facility>
        <name>Massachusetts General Hospital</name>
        <address>
          <city>Boston</city>
          <state>Massachusetts</state>
          <zip>02114</zip>
          <country>United States</country>
        </address>
      </facility>
      <status>Recruiting</status>
      <contact>
        <last_name>Study Coordinator</last_name>
        <phone>617-643-2308</phone>
        <email>reproendogenetics@partners.org</email>
      </contact>
    </location>
    <location_countries>
      <country>United States</country>
    </location_countries>
    <verification_date>July 2023</verification_date>
    <study_first_submitted>July 17, 2023</study_first_submitted>
    <study_first_submitted_qc>July 31, 2023</study_first_submitted_qc>
    <study_first_posted type="Actual">August 2, 2023</study_first_posted>
    <last_update_submitted>July 31, 2023</last_update_submitted>
    <last_update_submitted_qc>July 31, 2023</last_update_submitted_qc>
    <last_update_posted type="Actual">August 2, 2023</last_update_posted>
    <responsible_party>
      <responsible_party_type>Sponsor-Investigator</responsible_party_type>
      <investigator_affiliation>Massachusetts General Hospital</investigator_affiliation>
      <investigator_full_name>Stephanie B. Seminara, MD</investigator_full_name>
      <investigator_title>Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine</investigator_title>
    </responsible_party>
    <keyword>Hypogonadotropic hypogonadism</keyword>
    <keyword>Reproductive disorders</keyword>
    <keyword>Kallmann syndrome</keyword>
    <keyword>Kisspeptin</keyword>
    <keyword>Delayed Puberty</keyword>
    <condition_browse>
      <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
      <mesh_term>Kallmann Syndrome</mesh_term>
      <mesh_term>Hypogonadism</mesh_term>
      <mesh_term>Puberty, Delayed</mesh_term>
    </condition_browse>
    <patient_data>
      <sharing_ipd>No</sharing_ipd>
    </patient_data>
    <!-- Results have not yet been posted for this study                                          -->
  </clinical_study>
  
  
text: 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/NCT05971836
  org study id: 2020P000762
  nct id: NCT05971836
  lead sponsor: 
  has dmc: No
  is fda regulated drug: No
  is fda regulated device: No
  The goal of this study is to learn more about the genes that control puberty and reproduction
        in humans.
  All study subjects will undergo the same activities. Subjects will provide up to five tubes
        of blood for genetic analysis, complete a smell test, and answer questions about their health
        and family history.
  observational model: Cohort
  time perspective: Prospective
  measure: Genetic variation
  time frame: Day 1
  description: Identification of one or more genetic variations related to reproductive disorders
  arm group label: Subjects with Reproductive Disorders
  description: Individuals with reproductive disorders and their affected and unaffected family members
  study pop: 
  sampling method: Non-Probability Sample
  criteria: 
  gender: All
  minimum age: 1 Year
  maximum age: N/A
  healthy volunteers: No
  last name: Stephanie Seminara, MD
  role: Principal Investigator
  affiliation: Massachusetts General Hospital
  last name: Study Coordinator
  phone: 617-643-2308
  email: reproendogenetics@partners.org
  facility: 
  status: Recruiting
  contact: 
  country: United States
  responsible party type: Sponsor-Investigator
  investigator affiliation: Massachusetts General Hospital
  investigator full name: Stephanie B. Seminara, MD
  investigator title: Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine
  mesh term: Kallmann Syndrome
  mesh term: Hypogonadism
  mesh term: Puberty, Delayed
  sharing ipd: No