Retinitis PigmentosaRU-RPNCT03901391
Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
An observational study of Retinitis Pigmentosa and Usher Syndromes, run by Sensor Technology for Deafblind at 2 sites in Russia.
Trial summary
This study is aimed to characterize Russian population of Retinitis Pigmentosa Read more about this study
- Who is it for?
- Ages 6 to 65 years
- Conditions the study is for
- Retinitis Pigmentosa, Usher Syndromes
- What is being tested?
- Whole Exome Sequencing
- How many people
- 130 participants
- Where
- 2 sitesRussia
- Study dates
- 26 Mar 2019to 20 Oct 2020
- 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 6 to 65 years
- All sexes
- Child, Adult, Older adult
Study population: It is assumed that at least 130 patients of the Russian population of men and women aged 6 to 65 years, with verified diagnosis of Retinitis pigmentosa (AD, AR, X-linked or sporadic as defined by the Retinitis pigmentosa consortium), will take part in this research study.
Who may be able to join
- Patient fulfill the clinical characteristics for Retinitis Pigmentosa (AD, AR, X-linked, sporadic) as defined by the Retinitis pigmentosa consortium
- Results of perimetry for each eye show narrowing for 15 degrees or more.
- Patient is familiar with Participant information sheet
- Patient signed informed consent form
- Non-inclusion Criteria:
- Participation in other clinical trials (or administration of investigational drugs) during 3 months prior inclusion
Show all 9Show fewer
- Any conditions limiting compliance (dementia, neuropsychiatric disease, drug and alcohol abuse etc.)
- Medical history of traumatic injury of eyes, barotrauma, concussion, craniocerebral trauma, cerebrovascular accident
- Congenital multiple development orbit and eye malformations
Who cannot join
- Patient's refusal from the further participation in the trial
- Decompensated diabetes mellitus
- Severe coronary artery disease
- Chronic infectious disease
- Patients with malignant tumors including postoperative period, patients receiving chemotherapy and/or radiotherapy
Trial locations and contacts
2 sites in 1 country.
Russia2 sites
Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health
Moscow, 105062
Central Clinical Hospital under President Affairs
Moscow, 121359
About this study
Official title: Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment
This study is aimed to characterize Russian population of Retinitis Pigmentosa
Read the detailed description
This study is aimed to characterize Russian population of Retinitis Pigmentosa.
Tasks:
Stage 1. Formation of the primary cohort of patients. Patients pre-recruiting will be performed based on Deaf-Blind Support Foundation "Con-nection" patient database analysis and from references. Patients with clinically confirmed Retinitis pigmentosa will be evaluated according to available data of the clinical examination.
Stage 2. Genetic study of patients. All enrolled patients will undergo single 4 ml peripheral venous blood sampling. DNA will be extracted from leucocytes. DNA samples will be analyzed and placed for long-term storage in liquid nitrogen. Stage 3. Clinical examination of patients.
Each patient will undergo the following diagnostic procedures according to the unified protocol:
- Visometry (with correction and without correction)
- Ophthalmoscopy
- Perimetry
- Optical coherence tomography
- Electroretinography
- Visually evoked potentials
- Refractometry
- Pneumotonometry
- Biomicroscopy
- Any additional examinations and consultations if necessary Medical record will be developed and maintained for each patient consisting results of extended clinical examination.
Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will be performed.
- Conditions
- Retinitis Pigmentosa, Usher Syndromes
- Being tested
- Whole Exome Sequencing
- Medical subject headings
- Retinitis Pigmentosa, Usher Syndromes
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Whole Exome SequencingDiagnostic test
Whole Exome Sequencing
| Study group | Role | What they receive |
|---|---|---|
| Retinitis Pigmentosa | Not described Receives: Diagnostic Test: Whole Exome Sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in visual acuity
Measured by visual acuity test
Measured: Up to 4 weeks
Changes in structures of fundus of the eye-1
Measured by ophthalmoscopy
Measured: Up to 4 weeks
Changes in structures of fundus of the eye-2
Measured by ophthalmoscopy
Measured: Up to 4 weeks
Changes in visual field
Measured by perimetry
Measured: Up to 4 weeks
Changes in brain visual cortex neural pathways
Measured by visually evoked potentials
Measured: Up to 4 weeks
Changes in electroretinogram
Measured by electroretinography
Measured: Up to 4 weeks
Changes in optical refraction
Measured by refractometry
Measured: Up to 4 weeks
Changes in intraocular pressure
Measured by pneumotonometry
Measured: Up to 4 weeks
Changes in the lens, cornea, anterior segment of the eye
Measured by biomicroscopy
Measured: Up to 4 weeks
Changes in central retinal profile
Measured by optical coherent tomography
Measured: Up to 4 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Apr 2019
- Study start26 Mar 2019
- Primary completion19 Oct 2020
- Study completion20 Oct 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Retinitis PigmentosaStudies of the same condition, open and under way.
- 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 130 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sensor Technology for Deafblind
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Central Clinical Hospital under President Affairs, Deaf-Blind Support Foundation Con-nection, Federal State Budgetary Institution Moscow Helmholtz Eye Research Institute, Federal State Budgetary Institution Research Center for Medical Genetics, Oftalmic LLC, Center for Genetics and Reproductive Medicine Genetico
- Responsible party
- Sponsor
- Investigators
- Dmitry S. Atarshchikov, MD, PhD, Principal investigator, Central Clinical Hospital under President Affairs
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03901391
- Sponsor's protocol ID
- RU-RP-03-2019
- Acronym
- RU-RP
- Status last verified
- May 2022
- First submitted
- 1 Apr 2019
- Last updated
- 20 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment
- ClinicalTrials.gov ID
- NCT03901391
- Acronym / sponsor ID
- RU-RP / RU-RP-03-2019
- Conditions
- Retinitis Pigmentosa, Usher Syndromes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 130 participants (actual)
- Lead sponsor
- Sensor Technology for DeafblindIndustry (pharma, biotech, devices)
- Collaborators
- Central Clinical Hospital under President Affairs, Deaf-Blind Support Foundation Con-nection, Federal State Budgetary Institution Moscow Helmholtz Eye Research Institute, Federal State Budgetary Institution Research Center for Medical Genetics, Oftalmic LLC, Center for Genetics and Reproductive Medicine Genetico
- Study start
- 26 Mar 2019 (actual)
- Primary completion
- 19 Oct 2020 (actual)
- Study completion
- 20 Oct 2020 (actual)
- First posted
- 3 Apr 2019 (actual)
- 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.
This study is aimed to characterize Russian population of Retinitis Pigmentosa
Detailed description
This study is aimed to characterize Russian population of Retinitis Pigmentosa.
Tasks:
Stage 1. Formation of the primary cohort of patients. Patients pre-recruiting will be performed based on Deaf-Blind Support Foundation "Con-nection" patient database analysis and from references. Patients with clinically confirmed Retinitis pigmentosa will be evaluated according to available data of the clinical examination.
Stage 2. Genetic study of patients. All enrolled patients will undergo single 4 ml peripheral venous blood sampling. DNA will be extracted from leucocytes. DNA samples will be analyzed and placed for long-term storage in liquid nitrogen. Stage 3. Clinical examination of patients.
Each patient will undergo the following diagnostic procedures according to the unified protocol:
- Visometry (with correction and without correction)
- Ophthalmoscopy
- Perimetry
- Optical coherence tomography
- Electroretinography
- Visually evoked potentials
- Refractometry
- Pneumotonometry
- Biomicroscopy
- Any additional examinations and consultations if necessary Medical record will be developed and maintained for each patient consisting results of extended clinical examination.
Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will be performed.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Retinitis Pigmentosa | – | Diagnostic Test: Whole Exome Sequencing |
Who may qualify
- Ages
- 6 to 65 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- It is assumed that at least 130 patients of the Russian population of men and women aged 6 to 65 years, with verified diagnosis of Retinitis pigmentosa (AD, AR, X-linked or sporadic as defined by the Retinitis pigmentosa consortium), will take part in this research study.
Key inclusion criteria (9 listed)
- Patient fulfill the clinical characteristics for Retinitis Pigmentosa (AD, AR, X-linked, sporadic) as defined by the Retinitis pigmentosa consortium
- Results of perimetry for each eye show narrowing for 15 degrees or more.
- Patient is familiar with Participant information sheet
- Patient signed informed consent form
- Participation in other clinical trials (or administration of investigational drugs) during 3 months prior inclusion
Key exclusion criteria (5 listed)
- Patient's refusal from the further participation in the trial
- Decompensated diabetes mellitus
- Severe coronary artery disease
- Chronic infectious disease
- Patients with malignant tumors including postoperative period, patients receiving chemotherapy and/or radiotherapy
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Whole Exome SequencingWhole Exome Sequencing | Diagnostic test | Retinitis Pigmentosa |
Primary outcome
Changes in visual acuity
Time frame: Up to 4 weeks
Measured by visual acuity test
Changes in structures of fundus of the eye-1
Time frame: Up to 4 weeks
Measured by ophthalmoscopy
Changes in structures of fundus of the eye-2
Time frame: Up to 4 weeks
Measured by ophthalmoscopy
Changes in visual field
Time frame: Up to 4 weeks
Measured by perimetry
Changes in brain visual cortex neural pathways
Time frame: Up to 4 weeks
Measured by visually evoked potentials
Changes in electroretinogram
Time frame: Up to 4 weeks
Measured by electroretinography
Changes in optical refraction
Time frame: Up to 4 weeks
Measured by refractometry
Changes in intraocular pressure
Time frame: Up to 4 weeks
Measured by pneumotonometry
Changes in the lens, cornea, anterior segment of the eye
Time frame: Up to 4 weeks
Measured by biomicroscopy
Changes in central retinal profile
Time frame: Up to 4 weeks
Measured by optical coherent tomography
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 20 May 2022.
- Individual participant dataSharing planned: No
Related trials for Retinitis Pigmentosa
RecruitingObservational study
Rod and Cone Mediated Function in Retinal Disease
Retinal Degeneration, Retinitis Pigmentosa
RecruitingObservational study
Cell Collection to Study Eye Diseases
Retinal Disease, AMD
Recruiting
Brain Stimulation Effects on Orientation and Mobility Skills in Adults With Vision Impairment
Retinitis Pigmentosa (RP), Rod Cone Dystrophy
RecruitingObservational study
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
Inherited Retinal Degeneration, Retinitis Pigmentosa
Active, not recruitingObservational study
Rate of Progression in EYS Related Retinal Degeneration
Retinitis Pigmentosa, Eye Diseases
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.
Dmitry S. Atarshchikov, MD, PhD principal investigator
Central Clinical Hospital under President Affairs
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinitis Pigmentosa and Usher Syndromes, run by Sensor Technology for Deafblind at 2 sites in Russia.
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 9 inclusion and 5 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 20 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Russia. 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?
Changes in visual acuity (time frame: Up to 4 weeks). The study lists 10 primary outcomes in all. 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 20 May 2022.