Clinical and Genetic Testing of Patients With Usher Syndrome

Retinitis Pigmentosa Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03319524
• Other study ID #: RU-USH-09-2016
• Status: Completed
• Start date: May 17, 2017
• Est. completion date: June 1, 2018

Study information

• Verified date: April 2019
• Source: Sensor Technology for Deafblind
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 28
• Est. completion date: June 1, 2018
• Est. primary completion date: April 1, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Congenital Deafness
• Deafness
• Retinitis
• Retinitis Pigmentosa
• Syndrome
• Usher Syndrome
• Usher Syndromes

Locations

Country	Name	City	State
Russian Federation	Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"	Moscow
Russian Federation	Deaf-Blind Support Foundation "Con-nection"	Moscow
Russian Federation	Federal State Budgetary Institution "Research Center for Medical Genetics"	Moscow
Russian Federation	Oftalmic LLC	Moscow
Russian Federation	Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia	Moscow
Russian Federation	State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency	Moscow

Sponsors (7)

Lead Sponsor	Collaborator
Sensor Technology for Deafblind	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

Country where clinical trial is conducted

Russian Federation, 

References & 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 Rus — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in visual acuity	Measured by visometry	Up to 4 weeks
Primary	Changes in structures of fundus of the eye-1	Measured by ophthalmoscopy	Up to 4 weeks
Primary	Changes in structures of fundus of the eye-2	Measured by optical coherence tomography	Up to 4 weeks
Primary	Changes in visual field	Measured by perimetry	Up to 4 weeks
Primary	Changes in retinal ganglion cell dysfunction	Measured by electroretinography	Up to 4 weeks
Primary	Changes in brain visual cortex neural pathways	Measured by visually evoked potentials	Up to 4 weeks
Primary	Changes in optical refraction	Measured by refractometry	Up to 4 weeks
Primary	Changes in intraocular pressure	Measured by pneumotonometry	Up to 4 weeks
Primary	Changes in the lens, cornea, anterior segment of the eye	Measured by biomicroscopy	Up to 4 weeks
Primary	Changes in hearing-1	Measured by tonal audiometry	Up to 4 weeks
Primary	Changes in hearing-2	Measured by electronic audiometry (ASSR test)	Up to 4 weeks
Primary	Changes in efficient sound transmission in the middle ear	Measured by acoustic impedance measurement	Up to 4 weeks
Primary	Changes in vestibular functions	Measured by vestibulometry	Up to 4 weeks
Primary	Changes in vestibular reactions	Measured by electronystagmography	Up to 4 weeks