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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02162953
Recruitment Status : Active, not recruiting
First Posted : June 13, 2014
Last Update Posted : January 6, 2022
Information provided by (Responsible Party):
Alan D. Marmorstein, Ph.D., Mayo Clinic

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

Condition or disease
Retinal Disease Bestrophinopathy Best Vitelliform Macular Dystrophy Adult Onset Vitelliform Macular Dystrophy Autosomal Dominant Vitreoretinalchoroidopathy

Detailed Description:

The PI on this proposal has been studying BEST1 and the protein encoded (Best1) since its discovery in 1998. Best1 is an integral membrane protein that in the eye is expressed only by retinal pigment epithelial (RPE) cells where it is localized to the basolateral plasma membrane.

Methods: Once a subject has been identified as a potential candidate, a study coordinator will meet with the subject, to discuss the study prior to sample collection. The study coordinator will review the consent form with the subject and spend as much time as necessary answering any questions. Once the subject has signed the consent form, study procedures will begin.

Following the consent process, a skin sample will be obtained from subjects using a (4mm) dermal punch biopsy method. This will be accomplished in a single visit to the Regenerative Medicine Consult Service or other approved clinical examination room. A suture may need to be placed following this skin biopsy. A health care provider (either at Mayo Clinic or a local health care provider's office) can remove the stitches, or the subject can remove them with a provided disposable suture removal kit.

Subjects will also be asked to undergo venipuncture; all subjects will be asked to have the venipuncture and have the option to refuse. 10ml of blood will be collected for RNA and DNA extraction.

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.

Remuneration: If subjects make a special trip only for the research procedures, they may be reimbursed for travel expenses including: airfare, mileage, parking, and hotel. In order to receive reimbursement, they must provide a copy of the original receipts for those expenses. Reimbursement will not exceed $1000.00.

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Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Other
Time Perspective: Prospective
Official Title: Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.
Study Start Date : February 2014
Estimated Primary Completion Date : December 2023
Estimated Study Completion Date : December 2023

Primary Outcome Measures :
  1. Number of iPS cells successfully differentiated into RPE cells [ Time Frame: one year ]

Biospecimen Retention:   Samples With DNA

Whole blood (10 ml) for DNA/RNA extraction

Dermal Tissue from Skin punch biopsy

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02162953

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United States, Minnesota
Mayo Clinic
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
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Principal Investigator: Alan D. Marmorstein, Ph.D. Mayo Clinic
Principal Investigator: Raymond Iezzi, M.D. Mayo Clinic
Principal Investigator: Sophie J. Bakri, M.D. Mayo Clinic
Additional Information:
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Responsible Party: Alan D. Marmorstein, Ph.D., Professor of Ophthalmology,, Mayo Clinic Identifier: NCT02162953    
Other Study ID Numbers: 13-008089
First Posted: June 13, 2014    Key Record Dates
Last Update Posted: January 6, 2022
Last Verified: January 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: All samples will be de-identified and given a code while stored and used in research. IPD available to other researchers might include age, gender, genetic mutation and diagnosis. No other information will be shared.
Keywords provided by Alan D. Marmorstein, Ph.D., Mayo Clinic:
eye disease
Additional relevant MeSH terms:
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Retinal Diseases
Macular Degeneration
Vitelliform Macular Dystrophy
Eye Diseases
Retinal Degeneration
Eye Diseases, Hereditary
Genetic Diseases, Inborn