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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.
 
ClinicalTrials.gov Identifier: NCT02162953
Recruitment Status : Active, not recruiting
First Posted : June 13, 2014
Last Update Posted : February 20, 2020
Sponsor:
Information provided by (Responsible Party):
Alan D. Marmorstein, Ph.D., Mayo Clinic

Tracking Information
First Submitted Date June 11, 2014
First Posted Date June 13, 2014
Last Update Posted Date February 20, 2020
Study Start Date February 2014
Estimated Primary Completion Date December 2021   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: June 11, 2014)
Number of iPS cells successfully differentiated into RPE cells [ Time Frame: one year ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
Official Title Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.
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

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.

Study Type Observational
Study Design Observational Model: Other
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:

Whole blood (10 ml) for DNA/RNA extraction

Dermal Tissue from Skin punch biopsy

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.
Condition
  • Retinal Disease
  • Bestrophinopathy
  • Best Vitelliform Macular Dystrophy
  • Adult Onset Vitelliform Macular Dystrophy
  • Autosomal Dominant Vitreoretinalchoroidopathy
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Active, not recruiting
Estimated Enrollment
 (submitted: March 16, 2016)
100
Original Estimated Enrollment
 (submitted: June 11, 2014)
21
Estimated Study Completion Date December 2021
Estimated Primary Completion Date December 2021   (Final data collection date for primary outcome measure)
Eligibility Criteria

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.
Sex/Gender
Sexes Eligible for Study: All
Ages 5 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02162953
Other Study ID Numbers 13-008089
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
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.
Responsible Party Alan D. Marmorstein, Ph.D., Mayo Clinic
Study Sponsor Mayo Clinic
Collaborators Not Provided
Investigators
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
PRS Account Mayo Clinic
Verification Date February 2020