Status:

COMPLETED

Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Lead Sponsor:

Mayo Clinic

Conditions:

Vacterl Association

Congenital Malformation

Eligibility:

All Genders

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...

Eligibility Criteria

Inclusion

  • Adults with confirmed or putative diagnosis of VACTERL association;
  • Families (mother, father, biological offspring) with a history of VACTERL-associated malformations
  • Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations
  • 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

  • 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.

Key Trial Info

Start Date :

December 1 2019

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

December 1 2022

Estimated Enrollment :

132 Patients enrolled

Trial Details

Trial ID

NCT03799705

Start Date

December 1 2019

End Date

December 1 2022

Last Update

April 19 2024

Active Locations (1)

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1

Mayo Clinic

Rochester, Minnesota, United States, 55905

Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway | DecenTrialz