<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/NCT03799705</url>
  </required_header>
  <id_info>
    <org_study_id>18-001135</org_study_id>
    <nct_id>NCT03799705</nct_id>
  </id_info>
  <brief_title>Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway</brief_title>
  <official_title>Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Mayo Clinic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Mayo Clinic</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Researchers are trying to identify versions of genes as well as factors in subjects blood&#xD;
      associated with certain types of congenital malformations(CMs). This study will help the&#xD;
      researchers to better understand family traits that contribute to CMs.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Active, not recruiting</overall_status>
  <start_date type="Actual">December 1, 2019</start_date>
  <completion_date type="Anticipated">December 29, 2023</completion_date>
  <primary_completion_date type="Actual">December 29, 2022</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Family-Based</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Genetic variants</measure>
    <time_frame>2 years</time_frame>
    <description>Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Targeted metabolomics</measure>
    <time_frame>2 years</time_frame>
    <description>Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">840</enrollment>
  <condition>Vacterl Association</condition>
  <condition>Congenital Malformation</condition>
  <arm_group>
    <arm_group_label>History of VACTERL or congenital malformations</arm_group_label>
    <description>1) Adults with VACTERL association; 2) adults with a history of congenital malformations resembling VACTERL association; 3) gravid and non-gravid women with a history of recurrent miscarriage, their surviving offspring, and the biological father of offspring; 4) newly diagnosed VACTERL patients identified by healthcare providers.</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      DNA and metabolites will be extracted from blood and urine for genetic variant and targeted&#xD;
      metabolomics analyses.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        A US population consisting of adults with VACTERL, adults and offspring with a family&#xD;
        history of VACTERL, and women with a history of miscarriage and/or congenital&#xD;
        malformations.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Adults with confirmed or putative diagnosis of VACTERL association;&#xD;
&#xD;
          2. Families (mother, father, biological offspring) with a history of VACTERL-associated&#xD;
             malformations&#xD;
&#xD;
          3. Gravid or non-gravid women with a history of miscarriage and/or offspring with&#xD;
             non-VACTERL-associated malformations&#xD;
&#xD;
          4. Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer's&#xD;
             yeast (including beer) at least 24 hours prior to blood and urine collection&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        1) Parents of non-biological children 3) Children with congenital malformations associated&#xD;
        with an identifiable environmental or lifestyle exposure 4) Children with congenital&#xD;
        malformations associated with confirmed chromosomal disorders 5) Failure to abstain from&#xD;
        red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24&#xD;
        hours prior to blood and urine collection.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>0 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Myra Wick, MD PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Mayo Clinic</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Mayo Clinic</name>
      <address>
        <city>Rochester</city>
        <state>Minnesota</state>
        <zip>55905</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.mayo.edu/research/clinical-trials</url>
    <description>Mayo Clinic Clinical Trials</description>
  </link>
  <verification_date>January 2023</verification_date>
  <study_first_submitted>August 29, 2018</study_first_submitted>
  <study_first_submitted_qc>January 9, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 10, 2019</study_first_posted>
  <last_update_submitted>January 10, 2023</last_update_submitted>
  <last_update_submitted_qc>January 10, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">January 12, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Mayo Clinic</investigator_affiliation>
    <investigator_full_name>Myra J. Wick</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Congenital Abnormalities</mesh_term>
  </condition_browse>
  <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/NCT03799705
org study id: 18-001135
nct id: NCT03799705
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Researchers are trying to identify versions of genes as well as factors in subjects blood
      associated with certain types of congenital malformations(CMs). This study will help the
      researchers to better understand family traits that contribute to CMs.
observational model: Family-Based
time perspective: Other
measure: Genetic variants
time frame: 2 years
description: Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.
measure: Targeted metabolomics
time frame: 2 years
description: Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association
arm group label: History of VACTERL or congenital malformations
description: 1) Adults with VACTERL association; 2) adults with a history of congenital malformations resembling VACTERL association; 3) gravid and non-gravid women with a history of recurrent miscarriage, their surviving offspring, and the biological father of offspring; 4) newly diagnosed VACTERL patients identified by healthcare providers.
DNA and metabolites will be extracted from blood and urine for genetic variant and targeted
      metabolomics analyses.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 0 Years
maximum age: N/A
healthy volunteers: No
last name: Myra Wick, MD PhD
role: Principal Investigator
affiliation: Mayo Clinic
facility: 
country: United States
url: https://www.mayo.edu/research/clinical-trials
description: Mayo Clinic Clinical Trials
responsible party type: Principal Investigator
investigator affiliation: Mayo Clinic
investigator full name: Myra J. Wick
investigator title: Principal Investigator
mesh term: Congenital Abnormalities
sharing ipd: No