Clinical and Genetic Testing of Patients With Usher Syndrome

NCT03319524 | Completed

• 1 other identifier: RU-USH-09-2016
• Study Type: observational
• Target: 28
• Locations: 1 country
• Sites: 6

Brief Summary

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

Conditions

Usher Syndrome; Congenital Deafness; Retinitis Pigmentosa

Outcome Measures

Primary Outcomes (14)

• Changes in visual acuity

  Measured by visometry

  Up to 4 weeks

• Changes in structures of fundus of the eye-1

  Measured by ophthalmoscopy

  Up to 4 weeks

• Changes in structures of fundus of the eye-2

  Measured by optical coherence tomography

  Up to 4 weeks

• Changes in visual field

  Measured by perimetry

  Up to 4 weeks

• Changes in retinal ganglion cell dysfunction

  Measured by electroretinography

  Up to 4 weeks

• Changes in brain visual cortex neural pathways

  Measured by visually evoked potentials

  Up to 4 weeks

• Changes in optical refraction

  Measured by refractometry

  Up to 4 weeks

• Changes in intraocular pressure

  Measured by pneumotonometry

  Up to 4 weeks

• Changes in the lens, cornea, anterior segment of the eye

  Measured by biomicroscopy

  Up to 4 weeks

• Changes in hearing-1

  Measured by tonal audiometry

  Up to 4 weeks

• Changes in hearing-2

  Measured by electronic audiometry (ASSR test)

  Up to 4 weeks

• Changes in efficient sound transmission in the middle ear

  Measured by acoustic impedance measurement

  Up to 4 weeks

• Changes in vestibular functions

  Measured by vestibulometry

  Up to 4 weeks

• Changes in vestibular reactions

  Measured by electronystagmography

  Up to 4 weeks

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Sensor Technology for Deafblind: lead
• Burnasyan Federal Medical Biophysical Center: collaborator
• Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia: collaborator
• Federal State Budgetary Institution Research Center for Medical Genetics: collaborator
• ANO Laboratory Sensor-Tech: collaborator
• Oftalmic LLC: collaborator
• Deaf-Blind Support Foundation Con-nection: collaborator

Study Sites (6)

Federal State Budgetary Institution "Research Center for Medical Genetics"

Moscow, 115478, Russia

Location

Deaf-Blind Support Foundation "Con-nection"

Moscow, 117593, Russia

Location

State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency

Moscow, 123098, Russia

Location

Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia

Moscow, 123182, Russia

Location

Oftalmic LLC

Moscow, 125167, Russia

Location

Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"

Moscow, 129085, Russia

Location

Related Publications (1)

• 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.

  PMID: 30358468 RESULT

MeSH Terms

Conditions

Usher Syndromes; Retinitis Pigmentosa

Condition Hierarchy (Ancestors)

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

Study Officials

• Vladimir N Trubilin, MD, PhD, Prof

  State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 8 Months
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 2, 2017
• First Posted: October 24, 2017
• Study Start: May 17, 2017
• Primary Completion: April 1, 2018
• Study Completion: June 1, 2018
• Last Updated: April 3, 2019

Record last verified: 2019-04

Locations

RU (6)