A Study to Identify Rare Versions of Genes Associated with Certain Types of Congenital Malformations (CM)

Overview

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 Contact

Rochester, Minn.

Mayo Clinic principal investigator

Eduardo Chini, M.D., Ph.D.

Open for enrollment

Contact information:

Kelly Hogan Ph.D.

(507) 284-0746

Hogan.Kelly@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20429097

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