Clinical and Genetic Testing of Patients With Usher Syndrome

Brief Title

Clinical and Genetic Testing of Patients With Usher Syndrome

Official Title

Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome

Brief Summary

      This study is aimed to characterize Russian population of Usher patients.

Detailed Description

      This study is aimed to characterize Russian population of Usher patients.


      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.
      Patients with clinically confirmed Usher syndrome will be evaluated according to available
      data of the clinical examination.

      Stage 2. Clinical examination of patients.

      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

        -  Tonal audiometry

        -  Electronic audiometry (ASSR test)

        -  Acoustic impedance measurement

        -  Vestibulometry

        -  Electronystagmography

        -  Any additional examinations and consultations if necessary

      Medical record will be developed and maintained for each patient consisting results of
      extended clinical examination.

      Stage 3. 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. Statistical and bioinformatic analysis
      of detected genetic mutations in the study cohort will be performed.

Study Type

Observational [Patient Registry]

Primary Outcome

Changes in visual acuity


Usher Syndrome


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

Recruitment Information

Estimated Enrollment


Start Date

May 17, 2017

Completion Date

June 1, 2018

Primary Completion Date

April 1, 2018

Eligibility Criteria

        Inclusion Criteria:

          -  Patient fulfill the clinical characteristics for Usher syndrome type I, II or III as
             defined by the Usher syndrome consortium

          -  According to the results of audiometry, hearing loss is moderate or severe (level of
             acoustic threshold of audibility is 41 decibel and higher).

          -  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

        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




18 Years - 65 Years

Accepts Healthy Volunteers



Vladimir N Trubilin, MD, PhD, Prof, , 

Location Countries

Russian Federation

Location Countries

Russian Federation

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Sensor Technology for Deafblind


 Burnasyan Federal Medical Biophysical Center

Study Sponsor

Vladimir N Trubilin, MD, PhD, Prof, Principal Investigator, State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency

Verification Date

April 2019