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Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Sponsor
Mayo Clinic (Other)
Overall Status
Recruiting
CT.gov ID
NCT03799705
Collaborator
(none)
840
Enrollment
1
Location
47.9
Anticipated Duration (Months)
17.5
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Anticipated Enrollment :
    840 participants
    Observational Model:
    Family-Based
    Time Perspective:
    Other
    Official Title:
    Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations
    Actual Study Start Date :
    Jan 1, 2019
    Anticipated Primary Completion Date :
    Dec 30, 2022
    Anticipated Study Completion Date :
    Dec 30, 2022

    Arms and Interventions

    Arm Intervention/Treatment
    History of VACTERL or congenital malformations

    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.

    Outcome Measures

    Primary Outcome Measures

    1. Genetic variants [2 years]

      Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.

    2. Targeted metabolomics [2 years]

      Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    0 Years and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    1. Adults with confirmed or putative diagnosis of VACTERL association;

    2. Families (mother, father, biological offspring) with a history of VACTERL-associated malformations

    3. Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations

    4. Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection

    Exclusion Criteria:
    1. Parents of non-biological children 3) Children with congenital malformations associated with an identifiable environmental or lifestyle exposure 4) Children with congenital malformations associated with confirmed chromosomal disorders 5) Failure to abstain from red meat, meat products, chicken, peanuts, or brewer's yeast (including beer) at least 24 hours prior to blood and urine collection.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Mayo Clinic Rochester Minnesota United States 55905

    Sponsors and Collaborators

    • Mayo Clinic

    Investigators

    • Principal Investigator: Eduardo Chini, MD PhD, Mayo Clinic

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    Eduardo N. Chini, Principal Investigator, Mayo Clinic
    ClinicalTrials.gov Identifier:
    NCT03799705
    Other Study ID Numbers:
    • 18-001135
    First Posted:
    Jan 10, 2019
    Last Update Posted:
    Oct 12, 2021
    Last Verified:
    Oct 1, 2021
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Congenital Abnormalities

    Study Results

    No Results Posted as of Oct 12, 2021