Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Overview

This study is aimed to characterize Russian population of Retinitis Pigmentosa

Full Title of Study: “Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: October 19, 2020

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.

Interventions

  • Diagnostic Test: Whole Exome Sequencing
    • Whole Exome Sequencing

Arms, Groups and Cohorts

  • Retinitis Pigmentosa

Clinical Trial Outcome Measures

Primary Measures

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

Participating in This Clinical Trial

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 Noninclusion 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

Gender Eligibility: All

Minimum Age: 6 Years

Maximum Age: 65 Years

Investigator Details

  • Lead Sponsor
    • Sensor Technology for Deafblind
  • Collaborator
    • Central Clinical Hospital under President Affairs
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Dmitry S. Atarshchikov, MD, PhD, Principal Investigator, Central Clinical Hospital under President Affairs

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