Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Brief Title

Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Official Title

Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations

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.
    

Study Type

Observational

Primary Outcome

Genetic variants

Condition

Vacterl Association

Study Arms / Comparison Groups

 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.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Estimated Enrollment

840

Start Date

January 1, 2019

Completion Date

December 30, 2022

Primary Completion Date

December 30, 2022

Eligibility Criteria

        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.
      

Gender

All

Ages

0 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Eduardo Chini, MD PhD, 507-284-0746, [email protected]

Location Countries

United States

Location Countries

United States

NCT ID

NCT03799705

Organization ID

18-001135

Responsible Party

Principal Investigator

Study Sponsor

Mayo Clinic

Study Sponsor

Eduardo Chini, MD PhD, Principal Investigator, Mayo Clinic

Verification Date

October 2021