Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations
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 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.
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
January 1, 2019
January 1, 2022
Primary Completion Date
May 30, 2021
1. Adults with confirmed or putative diagnosis of VACTERL association;
2. Families (mother, father, biological offspring) with a history of VACTERL-associated
3. Gravid or non-gravid women with a history of miscarriage and/or offspring with
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
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.