Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Completed

• Conditions: Usher Syndromes; Retinitis Pigmentosa
• Interventions: Diagnostic Test: Whole Exome Sequencing

• Registration Number: NCT03901391
• Lead Sponsor: Sensor Technology for Deafblind

Brief Summary

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 Timeline

• Study Start: 2019-03-26
• Study First Submitted: 2019-04-01
• Study First Submitted QC: 2019-04-01
• Study First Posted: 2019-04-03
• Primary Completion: 2020-10-19
• Study Completion: 2020-10-20
• Status Verified: 2022-05
• Last Update Submitted: 2022-05-19
• Last Update Posted: 2022-05-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 130

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Retinitis Pigmentosa	Whole Exome Sequencing	-

Primary Outcome Measures

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

Trial Locations

Locations (2)

Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health; 🇷🇺 Moscow, Russian Federation

Central Clinical Hospital under President Affairs; 🇷🇺 Moscow, Russian Federation