Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

Congenital Malformation Clinical Trial

Official title:

Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03799705
• Other study ID #: 18-001135
• Status: Completed
• Start date: December 1, 2019
• Est. completion date: December 1, 2022

Study information

• Verified date: April 2024
• Source: Mayo Clinic
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 132
• Est. completion date: December 1, 2022
• Est. primary completion date: December 1, 2022
• Accepts healthy volunteers: No
• Gender: All
• Age group: 0 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Congenital Abnormalities
• Congenital Malformation
• Vacterl Association

Locations

Country	Name	City	State
United States	Mayo Clinic	Rochester	Minnesota

Sponsors (1)

Lead Sponsor	Collaborator
Mayo Clinic

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic variants	Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.	2 years
Primary	Targeted metabolomics	Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association	2 years