Clinical trial NCT03319524: Clinical and Genetic Testing of Patients With Usher Syndrome
Official title: Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Usher Syndrome
Congenital Deafness
Retinitis Pigmentosa
Lead sponsor: Sensor Technology for Deafblind
Sponsor class: INDUSTRY
Collaborators: name: Burnasyan Federal Medical Biophysical Center
name: Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
name: Federal State Budgetary Institution Research Center for Medical Genetics
name: ANO Laboratory Sensor-Tech
name: Oftalmic LLC
name: Deaf-Blind Support Foundation Con-nection
First posted: 2017-10-24
Enrollment: 28
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: It is assumed that at least 28 patients of the Russian population of men and women aged 18 to 65 years, with verified diagnosis of Usher syndrome (type I, II or III as defined by the Usher syndrome consortium), will take part in this research study.

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.

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

Primary outcomes:
measure: Changes in visual acuity
timeFrame: Up to 4 weeks
measure: Changes in structures of fundus of the eye-1
timeFrame: Up to 4 weeks
measure: Changes in structures of fundus of the eye-2
timeFrame: Up to 4 weeks
measure: Changes in visual field
timeFrame: Up to 4 weeks
measure: Changes in retinal ganglion cell dysfunction
timeFrame: Up to 4 weeks
measure: Changes in brain visual cortex neural pathways
timeFrame: Up to 4 weeks
measure: Changes in optical refraction
timeFrame: Up to 4 weeks
measure: Changes in intraocular pressure
timeFrame: Up to 4 weeks
measure: Changes in the lens, cornea, anterior segment of the eye
timeFrame: Up to 4 weeks
measure: Changes in hearing-1
timeFrame: Up to 4 weeks
measure: Changes in hearing-2
timeFrame: Up to 4 weeks
measure: Changes in efficient sound transmission in the middle ear
timeFrame: Up to 4 weeks
measure: Changes in vestibular functions
timeFrame: Up to 4 weeks
measure: Changes in vestibular reactions
timeFrame: Up to 4 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Moscow
country: Russian Federation
facility: Federal State Budgetary Institution "Research Center for Medical Genetics"
city: Moscow
country: Russian Federation
facility: Deaf-Blind Support Foundation "Con-nection"
city: Moscow
country: Russian Federation
facility: State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
city: Moscow
country: Russian Federation
facility: Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
city: Moscow
country: Russian Federation
facility: Oftalmic LLC
city: Moscow
country: Russian Federation
facility: Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"
Study officials:
affiliation: State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
name: Vladimir N Trubilin, MD, PhD, Prof
role: PRINCIPAL_INVESTIGATOR
References:
citation: Ivanova ME, Trubilin VN, Atarshchikov DS, Demchinsky AM, Strelnikov VV, Tanas AS, Orlova OM, Machalov AS, Overchenko KV, Markova TV, Golenkova DM, Anoshkin KI, Volodin IV, Zaletaev DV, Pulin AA, Nadelyaeva II, Kalinkin AI, Barh D. Genetic screening of Russian Usher syndrome patients toward selection for gene therapy. Ophthalmic Genet. 2018 Dec;39(6):706-713. doi: 10.1080/13816810.2018.1532527. Epub 2018 Oct 25.