Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Study Overview
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Brief Summary
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This study is aimed to characterize Russian population of Retinitis Pigmentosa

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.

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

Conditions
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Retinitis Pigmentosa, Usher Syndromes

Intervention / Treatment
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* Diagnostic Test: Whole Exome Sequencing


Participation Criteria
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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 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

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 65 Years

Sexes Eligible for Study
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All

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Retinitis Pigmentosa<br> | Diagnostic Test: Whole Exome Sequencing<br>* Whole Exome Sequencing<br>|

What is the study measuring?
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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 |