Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Usher Syndrome
- Sponsor
- Sensor Technology for Deafblind
- Enrollment
- 28
- Locations
- 6
- Primary Endpoint
- Changes in structures of fundus of the eye-2
- Status
- Completed
- Last Updated
- 7 years ago
Overview
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.
Investigators
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
Outcomes
Primary Outcomes
Changes in structures of fundus of the eye-2
Time Frame: Up to 4 weeks
Measured by optical coherence tomography
Changes in visual field
Time Frame: Up to 4 weeks
Measured by perimetry
Changes in retinal ganglion cell dysfunction
Time Frame: Up to 4 weeks
Measured by electroretinography
Changes in brain visual cortex neural pathways
Time Frame: Up to 4 weeks
Measured by visually evoked potentials
Changes in optical refraction
Time Frame: Up to 4 weeks
Measured by refractometry
Changes in intraocular pressure
Time Frame: Up to 4 weeks
Measured by pneumotonometry
Changes in the lens, cornea, anterior segment of the eye
Time Frame: Up to 4 weeks
Measured by biomicroscopy
Changes in hearing-1
Time Frame: Up to 4 weeks
Measured by tonal audiometry
Changes in hearing-2
Time Frame: Up to 4 weeks
Measured by electronic audiometry (ASSR test)
Changes in efficient sound transmission in the middle ear
Time Frame: Up to 4 weeks
Measured by acoustic impedance measurement
Changes in vestibular functions
Time Frame: Up to 4 weeks
Measured by vestibulometry
Changes in vestibular reactions
Time Frame: Up to 4 weeks
Measured by electronystagmography
Changes in visual acuity
Time Frame: Up to 4 weeks
Measured by visometry
Changes in structures of fundus of the eye-1
Time Frame: Up to 4 weeks
Measured by ophthalmoscopy