A Study to Identify Rare Versions of Genes Associated with Certain Types of Congenital Malformations (CM)
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 18-001135
NCT ID: NCT03799705
Sponsor Protocol Number: 18-001135
About this study
The purpose of this study is to use Whole Exome Sequencing (WES) to identify genetic variants in patients and families who have received care for VACTERL syndrome or congenital malformations at the Mayo Clinic. Additionally, to perform RNA Sequencing and targeted metabolomics analysis to identify alterations in gene expression and metabolites associated with the NAD pathway.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
- Adults with a confirmed or putative diagnosis of VACTERL association (as determined by medical record review).
- Families (mother, father, offspring) with a history of VACTERL-associated malformations.
- Non-affected twin sibling with a history of VACTERL-associated malformations.
- Women undergoing miscarriage or having a history of recurrent miscarriages and a family history of congenital malformations.
- Willingness to abstain from red meat, meat products, chicken, peanuts, or brewer’s yeast (including beers containing brewer’s yeast) at least 24 hours prior to blood and urine collection.
Exclusion Criteria:
- Parents of non-biological children.
- Children with congenital malformations associated with an identifiable environmental or lifestyle exposure (e.g., fetal alcohol syndrome).
- Children with congenital malformations associated with confirmed chromosomal disorders (e.g., DownSyndrome).
- Failure to abstain from red meat, meat products, chicken, peanuts, or brewer’s yeast (including beers containing brewer’s yeast) at least 24 hours prior to blood and urine collection.
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
| Mayo Clinic Location |
Status |
|
Rochester, Minn.
Mayo Clinic principal investigator Myra Wick, M.D., Ph.D. |
Closed for enrollment |
|
More information
Publications
Publications are currently not available