Blood, Corneal Endothelial and Skin Cell Repository for Research on Fuchs Endothelial Corneal Dystrophy at Mayo Clinic Florida

Overview

About this study

This study will establish a repository of stored blood, corneal endothelial and skin fibroblast samples from people with Fuchs endothelial corneal dystrophy (FECD), including both carriers and noncarriers for the most common genetic association, which is a trinucleotide repeat expansion in the noncoding region of the TCF4 gene.

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:

  1. Clinical diagnosis FECD
  2. >18 years of age and willing to provide consent
  3. Patients scheduled for endothelial keratoplasty surgery for non-FECD indications as controls for the study

Exclusion Criteria:

  1. Limited mental capacity rendering the subject unable to comply with skin punch biopsy or standard phlebotomy procedures.
  2. For collection of skin punch biopsy, an increased risk of bleeding complications or allergy to local anesthetic administered at the time of skin biopsy.

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

Jacksonville, Fla.

Mayo Clinic principal investigator

Darby Miller, M.D., M.P.H.

Closed for enrollment

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-20348154

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