Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Mayo Clinic

Status: Completed

Conditions: Vacterl Association; Congenital Malformation

Study type: Observational

Funder types: Other

Identifiers

NCT03799705

18-001135

Details and patient eligibility

About

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.

Enrollment: 132 patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

132 participants in 1 patient group

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.