Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Brief Title

Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Official Title

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

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.


      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

      Each patient will undergo the following diagnostic procedures according to the unified

        -  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

      Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will
      be performed.

Study Type


Primary Outcome

Changes in visual acuity


Retinitis Pigmentosa


Whole Exome Sequencing

Study Arms / Comparison Groups

 Retinitis Pigmentosa


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Diagnostic Test

Estimated Enrollment


Start Date

March 26, 2019

Completion Date

October 20, 2020

Primary Completion Date

October 19, 2020

Eligibility Criteria

        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




6 Years - 65 Years


Dmitry S. Atarshchikov, MD, PhD, , 

Location Countries

Russian Federation

Location Countries

Russian Federation

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Sensor Technology for Deafblind


 Central Clinical Hospital under President Affairs

Study Sponsor

Dmitry S. Atarshchikov, MD, PhD, Principal Investigator, Central Clinical Hospital under President Affairs

Verification Date

May 2022