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.
Recruitment Information
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
Administrative Informations
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