Clinical and Genetic Testing of Patients With Usher Syndrome

Completed

• Conditions: Retinitis Pigmentosa; Usher Syndrome; Congenital Deafness

• Registration Number: NCT03319524
• Lead Sponsor: Sensor Technology for Deafblind

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.

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. 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 protocol:

* 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 Timeline

• Study Start: 2017-05-17
• Study First Submitted: 2017-10-02
• Study First Submitted QC: 2017-10-23
• Study First Posted: 2017-10-24
• Primary Completion: 2018-04-01
• Study Completion: 2018-06-01
• Status Verified: 2019-04
• Last Update Submitted: 2019-04-01
• Last Update Posted: 2019-04-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 28

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Changes in vestibular reactions	Up to 4 weeks	Measured by electronystagmography
Changes in vestibular functions	Up to 4 weeks	Measured by vestibulometry
Changes in structures of fundus of the eye-2	Up to 4 weeks	Measured by optical coherence tomography
Changes in visual field	Up to 4 weeks	Measured by perimetry
Changes in retinal ganglion cell dysfunction	Up to 4 weeks	Measured by electroretinography
Changes in brain visual cortex neural pathways	Up to 4 weeks	Measured by visually evoked potentials
Changes in optical refraction	Up to 4 weeks	Measured by refractometry
Changes in intraocular pressure	Up to 4 weeks	Measured by pneumotonometry
Changes in the lens, cornea, anterior segment of the eye	Up to 4 weeks	Measured by biomicroscopy
Changes in hearing-1	Up to 4 weeks	Measured by tonal audiometry
Changes in hearing-2	Up to 4 weeks	Measured by electronic audiometry (ASSR test)
Changes in efficient sound transmission in the middle ear	Up to 4 weeks	Measured by acoustic impedance measurement
Changes in visual acuity	Up to 4 weeks	Measured by visometry
Changes in structures of fundus of the eye-1	Up to 4 weeks	Measured by ophthalmoscopy

Trial Locations

Locations (6)

Deaf-Blind Support Foundation "Con-nection"; 🇷🇺 Moscow, Russian Federation

Federal State Budgetary Institution "Research Center for Medical Genetics"; 🇷🇺 Moscow, Russian Federation

State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency; 🇷🇺 Moscow, Russian Federation

Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia; 🇷🇺 Moscow, Russian Federation

Oftalmic LLC; 🇷🇺 Moscow, Russian Federation

Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"; 🇷🇺 Moscow, Russian Federation