Skip to main content
OpenTrials
Completed

NCT Number: NCT03901391

Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

This study is aimed to characterize Russian population of Retinitis Pigmentosa

Completed

Looking for future studies?

Notify Me

Key information

Conditions

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

Age range

6 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Central Clinical Hospital under President Affairs, Moscow, Russia

Loading trial locations.

About this study

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.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Whole Exome Sequencing

Diagnostic Test

Whole Exome Sequencing

Primary outcomes

  1. Changes in visual acuity

    Time frame: Up to 4 weeks

    Measured by visual acuity test

  2. Changes in structures of fundus of the eye-1

    Time frame: Up to 4 weeks

    Measured by ophthalmoscopy

  3. Changes in structures of fundus of the eye-2

    Time frame: Up to 4 weeks

    Measured by ophthalmoscopy

  4. Changes in visual field

    Time frame: Up to 4 weeks

    Measured by perimetry

  5. Changes in brain visual cortex neural pathways

    Time frame: Up to 4 weeks

    Measured by visually evoked potentials

  6. Changes in electroretinogram

    Time frame: Up to 4 weeks

    Measured by electroretinography

  7. Changes in optical refraction

    Time frame: Up to 4 weeks

    Measured by refractometry

  8. Changes in intraocular pressure

    Time frame: Up to 4 weeks

    Measured by pneumotonometry

  9. Changes in the lens, cornea, anterior segment of the eye

    Time frame: Up to 4 weeks

    Measured by biomicroscopy

  10. Changes in central retinal profile

    Time frame: Up to 4 weeks

    Measured by optical coherent tomography

Sponsors and collaborators

Lead sponsor

Sensor Technology for Deafblind

Industry

Collaborators

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

Registry information

Official study title

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

Acronym: RU-RP

Important dates

Study start
2019
Primary completion
2020
Study completion
2020
First posted
Apr 3, 2019
Registry last updated
May 20, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.