Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

130 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-03-26

Study Completion Date

2020-10-20

Brief Summary

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This study is aimed to characterize Russian population of Retinitis Pigmentosa

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Detailed Description

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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

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Retinitis Pigmentosa Usher Syndromes

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Retinitis Pigmentosa

Whole Exome Sequencing

Intervention Type DIAGNOSTIC_TEST

Whole Exome Sequencing

Interventions

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Whole Exome Sequencing

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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

* 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

Minimum Eligible Age

6 Years

Maximum Eligible Age

65 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No