Congenital Malformation, Vacterl Association
Conditions
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.
Interventions
None listed
Sponsors
Mayo Clinic
Study design
Observational model
FAMILY_BASED
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
0 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Genetic variants | 2 years | Identification of genetic variants which may be associated with VACTERL association or other congenital malformations. |
| Targeted metabolomics | 2 years | Identification of changes in metabolic pathways which may provide functional insight into the presence of genetic variants in patients with VACTERL association |
Countries
United States
Outcome results
None listed