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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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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
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.
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Myra Wick, MD PhD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic | Rochester | Minnesota | 55905 | United States |
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| Label | URL |
|---|---|
| Mayo Clinic Clinical Trials | View source |
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| ID | Term |
|---|---|
| C536495 | VACTERL association |
| D000013 | Congenital Abnormalities |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
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DNA and metabolites will be extracted from blood and urine for genetic variant and targeted metabolomics analyses.