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Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.

NCT02162953 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 48

Last updated 2023-01-09

No results posted yet for this study

Summary

Background: Autosomal recessive bestrophinopathy (ARB) is one of 5 blinding eye diseases caused by mutations in the gene BEST1. These diseases, collectively termed "bestrophinopathies" include ARB, Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform dystrophy (AVMD), autosomal dominant vitreoretinalchoroidopathy (ADVIRC) and retinitis pigmentosa (RP) .

Objective: To collect DNA/RNA and skin samples from individuals with ARB or other diseases due to mutations in the gene BEST1. These models will be used to identify and test therapeutic approaches to treating these diseases.

Design: Study involves a one time donation of a skin punch biopsy and whole blood. Once the skin biopsy is obtained, skin fibroblasts will be isolated, which will be reprogrammed into iPSCs. RPE cells will be derived from the iPSCs

Conditions

  • Retinal Disease
  • Bestrophinopathy
  • Best Vitelliform Macular Dystrophy
  • Adult Onset Vitelliform Macular Dystrophy
  • Autosomal Dominant Vitreoretinalchoroidopathy

Sponsors & Collaborators

  • National Eye Institute (NEI)

    collaborator NIH

  • Mayo Clinic

    lead OTHER

Principal Investigators

  • Alan D. Marmorstein, Ph.D. · Mayo Clinic

  • Raymond Iezzi, M.D. · Mayo Clinic

  • Sophie J. Bakri, M.D. · Mayo Clinic

Eligibility

Min Age
5 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-02-28
Primary Completion
2022-12-31
Completion
2022-12-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02162953 on ClinicalTrials.gov