Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Ocular, Ocular |
| Therapuetic Areas: | Ophthalmology |
| Healthy: | No |
| Age Range: | 5 - Any |
| Updated: | 2/10/2019 |
| Start Date: | February 2014 |
| End Date: | December 2019 |
Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.
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
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
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.
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.
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.
We found this trial at
1
site
Rochester, Minnesota 55905
Principal Investigator: Alan D. Marmorstein, Ph.D.
Phone: 507-293-2884
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