Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

NCT03799705 | Completed

• 1 other identifier: 18-001135
• Study Type: observational
• Target: 132
• Locations: 1 country
• Sites: 1

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.

Conditions

Vacterl Association; Congenital Malformation

Outcome Measures

Primary Outcomes (2)

• Genetic variants

  Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.

  2 years

• 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

Study Arms (1)

History of VACTERL or congenital malformations

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.

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

A US population consisting of adults with VACTERL, adults and offspring with a family history of VACTERL, and women with a history of miscarriage and/or congenital malformations.

You may qualify if:

• Adults with confirmed or putative diagnosis of VACTERL association;
• Families (mother, father, biological offspring) with a history of VACTERL-associated malformations
• Gravid or non-gravid women with a history of miscarriage and/or offspring with non-VACTERL-associated malformations
• 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

You may not qualify if:

• \) 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.

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

DNA and metabolites will be extracted from blood and urine for genetic variant and targeted metabolomics analyses.

MeSH Terms

Conditions

VACTERL association; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Myra Wick, MD PhD

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: August 29, 2018
• First Posted: January 10, 2019
• Study Start: December 1, 2019
• Primary Completion: December 1, 2022
• Study Completion: December 1, 2022
• Last Updated: April 19, 2024

Record last verified: 2024-04

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)