Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway
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ClinicalTrials.gov Identifier: NCT03799705 |
Recruitment Status :
Active, not recruiting
First Posted : January 10, 2019
Last Update Posted : January 12, 2023
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Condition or disease |
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Vacterl Association Congenital Malformation |
Study Type : | Observational |
Estimated Enrollment : | 840 participants |
Observational Model: | Family-Based |
Time Perspective: | Other |
Official Title: | Identifying Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway in Patients With Congenital Malformations |
Actual Study Start Date : | December 1, 2019 |
Actual Primary Completion Date : | December 29, 2022 |
Estimated Study Completion Date : | December 29, 2023 |

Group/Cohort |
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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.
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- Genetic variants [ Time Frame: 2 years ]Identification of genetic variants which may be associated with VACTERL association or other congenital malformations.
- 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
Biospecimen Retention: Samples With DNA

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Ages Eligible for Study: | 0 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
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:
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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03799705
United States, Minnesota | |
Mayo Clinic | |
Rochester, Minnesota, United States, 55905 |
Principal Investigator: | Myra Wick, MD PhD | Mayo Clinic |
Responsible Party: | Myra J. Wick, Principal Investigator, Mayo Clinic |
ClinicalTrials.gov Identifier: | NCT03799705 |
Other Study ID Numbers: |
18-001135 |
First Posted: | January 10, 2019 Key Record Dates |
Last Update Posted: | January 12, 2023 |
Last Verified: | January 2023 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Congenital Abnormalities |