CompletedNot Applicable

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

United States48 participantsStarted 2014-02

Plain-language 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

Who can participate

Age range5 Years

SexALL

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Inclusion Criteria: * Patient must have been diagnosed on the basis of genotyping with a bestrophinopathy. * Patient must be willing to provide a skin biopsy from which we will generate iPSCs. * For pediatric patients, parents must be willing to donate skin biopsies as well. Exclusion Criteria: * Children under the age of 5 * Patients exhibiting secondary ophthalmic disorders that are not typically associated with the bestrophinopathies may be excluded.

What they're measuring

Number of iPS cells successfully differentiated into RPE cells

Timeframe: one year

Trial details

NCT IDNCT02162953

SponsorMayo Clinic

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2022-12-31

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