Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa (RU-RP)

Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment

This study is aimed to characterize Russian population of Retinitis Pigmentosa

Study Overview

• Status: Completed
• Conditions: Retinitis Pigmentosa; Usher Syndromes
• Intervention / Treatment: Diagnostic test: Whole Exome Sequencing

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 Type: Observational
• Enrollment (Actual): 130

Contacts and Locations

Study Locations

• Russian Federation
  • Moscow, Russian Federation, 105062
    • Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health
  • Moscow, Russian Federation, 121359
    • Central Clinical Hospital under President Affairs

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 6 years to 65 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

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.

Description

Inclusion Criteria:

• 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
• 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

Exclusion Criteria:

• 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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Retinitis Pigmentosa	Diagnostic test: Whole Exome Sequencing; Whole Exome Sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Changes in visual acuity	Measured by visual acuity test	Up to 4 weeks
Changes in structures of fundus of the eye-1	Measured by ophthalmoscopy	Up to 4 weeks
Changes in structures of fundus of the eye-2	Measured by ophthalmoscopy	Up to 4 weeks
Changes in visual field	Measured by perimetry	Up to 4 weeks
Changes in brain visual cortex neural pathways	Measured by visually evoked potentials	Up to 4 weeks
Changes in electroretinogram	Measured by electroretinography	Up to 4 weeks
Changes in optical refraction	Measured by refractometry	Up to 4 weeks
Changes in intraocular pressure	Measured by pneumotonometry	Up to 4 weeks
Changes in the lens, cornea, anterior segment of the eye	Measured by biomicroscopy	Up to 4 weeks
Changes in central retinal profile	Measured by optical coherent tomography	Up to 4 weeks

Collaborators and Investigators

• Sponsor: Sensor Technology for Deafblind
• 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
• Investigators: Principal Investigator: Dmitry S. Atarshchikov, MD, PhD, Central Clinical Hospital under President Affairs

Study record dates

Study Major Dates

• Study Start (Actual): March 26, 2019
• Primary Completion (Actual): October 19, 2020
• Study Completion (Actual): October 20, 2020

Study Registration Dates

• First Submitted: April 1, 2019
• First Submitted That Met QC Criteria: April 1, 2019
• First Posted (Actual): April 3, 2019

Study Record Updates

• Last Update Posted (Actual): May 20, 2022
• Last Update Submitted That Met QC Criteria: May 19, 2022
• Last Verified: May 1, 2022

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Congenital Abnormalities; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Ear Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Sensation Disorders; Abnormalities, Multiple; Hearing Disorders; Vision Disorders; Deaf-Blind Disorders; Hearing Loss, Sensorineural; Blindness; Hearing Loss; Deafness; Retinitis; Retinitis Pigmentosa; Usher Syndromes
• Other Study ID Numbers: RU-RP-03-2019

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No