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Genetic Variants in Nicotinamide Adenine Dinucleotide (NAD) Synthesis Pathway

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03799705
Recruitment Status : Recruiting
First Posted : January 10, 2019
Last Update Posted : August 14, 2019
Sponsor:
Information provided by (Responsible Party):
Eduardo N. Chini, Mayo Clinic

Study Description
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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.

Condition or disease
Vacterl Association Congenital Malformation

Study Design
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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 : January 1, 2019
Estimated Primary Completion Date : May 30, 2020
Estimated Study Completion Date : January 1, 2021

Resource links provided by the National Library of Medicine

Drug Information available for: Adenine

Groups and Cohorts
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Group/Cohort
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.


Outcome Measures
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Primary Outcome Measures :
  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


Biospecimen Retention:   Samples With DNA
DNA and metabolites will be extracted from blood and urine for genetic variant and targeted metabolomics analyses.

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Contacts and Locations
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Information from the National Library of Medicine

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


Contacts
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Contact: Heather LaBrec, BA 507-293-3446 LaBrec.Heather@mayo.edu
Contact: Kelly A Hogan, Ph.D. 507-284-0746 hogan.kelly@mayo.edu

Locations
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United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55905
Contact: Heather LaBrec, BA    507-293-3446    LaBrec.Heather@mayo.edu   
Contact: Kelly A Hogan, Ph.D.    507-284-0746    hogan.kelly@mayo.edu   
Principal Investigator: Eduardo Chini, MD PhD         
Sponsors and Collaborators
Mayo Clinic
Investigators
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Principal Investigator: Eduardo Chini, MD PhD Mayo Clinic
More Information
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Additional Information:
Mayo Clinic Clinical Trials  This link exits the ClinicalTrials.gov site

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Responsible Party: Eduardo N. Chini, 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: August 14, 2019
Last Verified: August 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Congenital Abnormalities
Niacinamide
Niacin
Nicotinic Acids
Vitamin B Complex
Vitamins
Micronutrients
Nutrients
 Growth Substances
Physiological Effects of Drugs
Hypolipidemic Agents
Antimetabolites
Molecular Mechanisms of Pharmacological Action
Lipid Regulating Agents
Vasodilator Agents