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Clinical and Genetic Testing of Patients With Usher Syndrome

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ClinicalTrials.gov Identifier: NCT03319524
Recruitment Status : Active, not recruiting
First Posted : October 24, 2017
Last Update Posted : October 24, 2017
Sponsor:
Collaborators:
Burnasyan Federal Medical Biophysical Center
Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
Federal State Budgetary Institution Research Center for Medical Genetics
ANO Laboratory Sensor-Tech
Oftalmic LLC
Deaf-Blind Support Foundation Con-nection
Information provided by (Responsible Party):
Sensor Technology for Deafblind

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

Condition or disease
Usher Syndrome Congenital Deafness Retinitis Pigmentosa

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 Type : Observational [Patient Registry]
Actual Enrollment : 28 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 8 Months
Official Title: Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
Actual Study Start Date : May 17, 2017
Estimated Primary Completion Date : February 1, 2018
Estimated Study Completion Date : March 1, 2018





Primary Outcome Measures :
  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



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03319524


Locations
Russian Federation
Federal State Budgetary Institution "Research Center for Medical Genetics"
Moscow, Russian Federation, 115478
Deaf-Blind Support Foundation "Con-nection"
Moscow, Russian Federation, 117593
State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
Moscow, Russian Federation, 123098
Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
Moscow, Russian Federation, 123182
Oftalmic LLC
Moscow, Russian Federation, 125167
Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"
Moscow, Russian Federation, 129085
Sponsors and Collaborators
Sensor Technology for Deafblind
Burnasyan Federal Medical Biophysical Center
Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
Federal State Budgetary Institution Research Center for Medical Genetics
ANO Laboratory Sensor-Tech
Oftalmic LLC
Deaf-Blind Support Foundation Con-nection
Investigators
Principal Investigator: Vladimir N Trubilin, MD, PhD, Prof State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency

Responsible Party: Sensor Technology for Deafblind
ClinicalTrials.gov Identifier: NCT03319524     History of Changes
Other Study ID Numbers: RU-USH-09-2016
First Posted: October 24, 2017    Key Record Dates
Last Update Posted: October 24, 2017
Last Verified: October 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
Syndrome
Retinitis
Retinitis Pigmentosa
Cone-Rod Dystrophies
Deafness
Usher Syndromes
Disease
Pathologic Processes
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn
Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Deaf-Blind Disorders
Hearing Loss, Sensorineural
Blindness
Vision Disorders
Abnormalities, Multiple
Congenital Abnormalities