Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

NCT03901391 | Completed

• 1 other identifier: RU-RP-03-2019
• Study Type: observational
• Target: 130
• Locations: 1 country
• Sites: 2

Brief Summary

This study is aimed to characterize Russian population of Retinitis Pigmentosa

Conditions

Retinitis Pigmentosa; Usher Syndromes

Outcome Measures

Primary Outcomes (10)

• 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

Study Arms (1)

Retinitis Pigmentosa

Diagnostic Test: Whole Exome Sequencing

Interventions

Whole Exome Sequencing DIAGNOSTIC_TEST

Whole Exome Sequencing

Retinitis Pigmentosa

Eligibility Criteria

• Age: 6 Years - 65 Years
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Sensor Technology for Deafblind: lead
• Central Clinical Hospital under President Affairs: collaborator
• Deaf-Blind Support Foundation Con-nection: collaborator
• Federal State Budgetary Institution Moscow Helmholtz Eye Research Institute: collaborator
• Federal State Budgetary Institution Research Center for Medical Genetics: collaborator
• Oftalmic LLC: collaborator
• Center for Genetics and Reproductive Medicine Genetico: collaborator

Study Sites (2)

Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health

Moscow, 105062, Russia

Location

Central Clinical Hospital under President Affairs

Moscow, 121359, Russia

Location

MeSH Terms

Conditions

Retinitis Pigmentosa; Usher Syndromes

Interventions

Exome

Condition Hierarchy (Ancestors)

Eye Diseases, Hereditary; Eye Diseases; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Deaf-Blind Disorders; Deafness; Hearing Loss; Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Hearing Loss, Sensorineural; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Blindness; Vision Disorders; Abnormalities, Multiple; Congenital Abnormalities; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Genome; Genetic Structures; Genetic Phenomena

Study Officials

• Dmitry S. Atarshchikov, MD, PhD

  Central Clinical Hospital under President Affairs

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 1, 2019
• First Posted: April 3, 2019
• Study Start: March 26, 2019
• Primary Completion: October 19, 2020
• Study Completion: October 20, 2020
• Last Updated: May 20, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

RU (2)