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

Plain-language summary

This study creates stem-cell (iPSC) models from skin biopsies of patients with bestrophinopathies (such as Best disease) in order to study these retinal diseases. Patients genetically diagnosed with a bestrophinopathy who were willing to give a skin biopsy (aged 5 and older) were able to take part. It was conducted as a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

Mayo Clinic

Start date

2/1/2014

Estimated completion

12/31/2022

Countries

United States

Related genes

Locations

• Rochester, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.