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
|Condition or disease|
|Vacterl Association Congenital Malformation|
|Study Type :||Observational|
|Estimated Enrollment :||840 participants|
|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|
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.
- 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
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|
|Rochester, Minnesota, United States, 55905|
|Principal Investigator:||Myra Wick, MD PhD||Mayo Clinic|