Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Completed

• Conditions: Vacterl Association; Congenital Malformation

• Registration Number: NCT03799705
• Lead Sponsor: Mayo Clinic

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-08-29
• Study First Submitted QC: 2019-01-09
• Study First Posted: 2019-01-10
• Study Start: 2019-12-01
• Primary Completion: 2022-12-01
• Study Completion: 2022-12-01
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-17
• Last Update Posted: 2024-04-19

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 132

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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
Genetic variants	2 years	Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.

Trial Locations

Locations (1)

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States