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Completed

NCT Number: NCT03319524

Clinical and Genetic Testing of Patients With Usher Syndrome

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

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Key information

Conditions

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

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Changes in visual acuity

    Time frame: Up to 4 weeks

    Measured by visometry

  2. Changes in structures of fundus of the eye-1

    Time frame: Up to 4 weeks

    Measured by ophthalmoscopy

  3. Changes in structures of fundus of the eye-2

    Time frame: Up to 4 weeks

    Measured by optical coherence tomography

  4. Changes in visual field

    Time frame: Up to 4 weeks

    Measured by perimetry

  5. Changes in retinal ganglion cell dysfunction

    Time frame: Up to 4 weeks

    Measured by electroretinography

  6. Changes in brain visual cortex neural pathways

    Time frame: Up to 4 weeks

    Measured by visually evoked potentials

  7. Changes in optical refraction

    Time frame: Up to 4 weeks

    Measured by refractometry

  8. Changes in intraocular pressure

    Time frame: Up to 4 weeks

    Measured by pneumotonometry

  9. Changes in the lens, cornea, anterior segment of the eye

    Time frame: Up to 4 weeks

    Measured by biomicroscopy

  10. Changes in hearing-1

    Time frame: Up to 4 weeks

    Measured by tonal audiometry

  11. Changes in hearing-2

    Time frame: Up to 4 weeks

    Measured by electronic audiometry (ASSR test)

  12. Changes in efficient sound transmission in the middle ear

    Time frame: Up to 4 weeks

    Measured by acoustic impedance measurement

  13. Changes in vestibular functions

    Time frame: Up to 4 weeks

    Measured by vestibulometry

  14. Changes in vestibular reactions

    Time frame: Up to 4 weeks

    Measured by electronystagmography

Sponsors and collaborators

Lead sponsor

Sensor Technology for Deafblind

Industry

Collaborators

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

Registry information

Official study title

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

Important dates

Study start
2017
Primary completion
2018
Study completion
2018
First posted
Oct 24, 2017
Registry last updated
Apr 3, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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