Retinal DiseaseNCT02162953
Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.
An observational study of Retinal Disease and Bestrophinopathy, run by Mayo Clinic at 1 site in United States.
Trial 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… Read more about this study
- Who is it for?
- Ages 5 years and older
- Conditions the study is for
- Retinal Disease, Bestrophinopathy, Best Vitelliform Macular Dystrophy
- How many people
- 48 participants
- Where
- 1 siteUnited States
- Study dates
- Feb 2014to 31 Dec 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 5 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Children (as well as their parents) and adults with mutations in the gene BEST1 resulting in one of the five bestrophinopathies.
Who may be able to join
- 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.
Who cannot join
- Children under the age of 5
- Patients exhibiting secondary ophthalmic disorders that are not typically associated with the bestrophinopathies may be excluded.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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
Read the 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.
- Conditions
- Retinal Disease, Bestrophinopathy, Best Vitelliform Macular Dystrophy, Adult Onset Vitelliform Macular Dystrophy, Autosomal Dominant Vitreoretinalchoroidopathy
- Keywords
- eye disease, retinal, best1
- Medical subject headings
- Retinal Diseases, Bestrophinopathy, Vitelliform Macular Dystrophy, Eye Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of iPS cells successfully differentiated into RPE cells
Measured: one year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jun 2014 (estimated)
- Study startFeb 2014
- Primary completion31 Dec 2022
- Study completion31 Dec 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinal DiseaseStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 48 participants (actual)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Responsible party
- Principal investigator, Alan D. Marmorstein, Ph.D., Mayo Clinic
- Investigators
- Alan D. Marmorstein, Ph.D., Principal investigator, Mayo ClinicRaymond Iezzi, M.D., Principal investigator, Mayo ClinicSophie J. Bakri, M.D., Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02162953
- Sponsor's protocol ID
- 13-008089
- Other IDs
- U01EY030547
- Status last verified
- Jan 2023
- First submitted
- 11 Jun 2014
- Last updated
- 9 Jan 2023
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided: 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.
Study at a glance
From the registry record, last updated by the sponsor on 9 Jan 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases.
- ClinicalTrials.gov ID
- NCT02162953
- Acronym / sponsor ID
- 13-008089
- Conditions
- Retinal Disease, Bestrophinopathy, Best Vitelliform Macular Dystrophy, Adult Onset Vitelliform Macular Dystrophy, Autosomal Dominant Vitreoretinalchoroidopathy
- Keywords
- eye disease, retinal, best1
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 48 participants (actual)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Collaborators
- National Eye Institute (NEI)
- Study start
- Feb 2014
- Primary completion
- 31 Dec 2022 (actual)
- Study completion
- 31 Dec 2022 (actual)
- First posted
- 13 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Prospective
Who may qualify
- Ages
- 5 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Children (as well as their parents) and adults with mutations in the gene BEST1 resulting in one of the five bestrophinopathies.
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- Children under the age of 5
- Patients exhibiting secondary ophthalmic disorders that are not typically associated with the bestrophinopathies may be excluded.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Number of iPS cells successfully differentiated into RPE cells
Time frame: one year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jan 2023.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Alan D. Marmorstein, Ph.D. principal investigator
Mayo Clinic
Raymond Iezzi, M.D. principal investigator
Mayo Clinic
Sophie J. Bakri, M.D. principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinal Disease and Bestrophinopathy, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 9 Jan 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of iPS cells successfully differentiated into RPE cells (time frame: one year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Jan 2023.