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OpenTrials
Completed

NCT Number: NCT03799705

Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

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.

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Key information

Conditions

Vacterl Association Congenital Abnormalities Congenital Malformation Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Age range

0 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic

Rochester, Minnesota, 55905, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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.

Treatment and study plan

Primary outcomes

  1. Genetic variants

    Time frame: 2 years

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

  2. Targeted metabolomics

    Time frame: 2 years

    Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

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

Important dates

Study start
2019
Primary completion
2022
Study completion
2022
First posted
Jan 10, 2019
Registry last updated
Apr 19, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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