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

NCT02162953 | Completed

• 2 other identifiers: 13-008089U01EY030547
• Study Type: observational
• Target: 48
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

eye disease; retinal; best1

Outcome Measures

Primary Outcomes (1)

• Number of iPS cells successfully differentiated into RPE cells

  one year

Eligibility Criteria

• Age: 5 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children (as well as their parents) and adults with mutations in the gene BEST1 resulting in one of the five bestrophinopathies.

You may qualify if:

• 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.

You may not qualify if:

• Children under the age of 5
• Patients exhibiting secondary ophthalmic disorders that are not typically associated with the bestrophinopathies may be excluded.

Sponsors & Collaborators

• Mayo Clinic: lead
• National Eye Institute (NEI): collaborator

Study Sites (1)

Mayo Clinic

Rochester, Minnesota, 55905, United States

Location

Related Links

• Mayo Clinic Clinical Trials

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood (10 ml) for DNA/RNA extraction Dermal Tissue from Skin punch biopsy

MeSH Terms

Conditions

Retinal Diseases; Bestrophinopathy; Vitelliform Macular Dystrophy; Eye Diseases

Condition Hierarchy (Ancestors)

Macular Degeneration; Retinal Degeneration; Eye Diseases, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Alan D. Marmorstein, Ph.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

• Raymond Iezzi, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

• Sophie J. Bakri, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Ophthalmology,

Study Record Dates

• First Submitted: June 11, 2014
• First Posted: June 13, 2014
• Study Start: February 1, 2014
• Primary Completion: December 31, 2022
• Study Completion: December 31, 2022
• Last Updated: January 9, 2023

Record last verified: 2023-01

Locations

US (1)