Usher SyndromeNCT03319524
Clinical and Genetic Testing of Patients With Usher Syndrome
An observational study of Usher Syndrome and Congenital Deafness, run by Sensor Technology for Deafblind at 6 sites in Russia.
Trial summary
This study is aimed to characterize Russian population of Usher patients. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Usher Syndrome, Congenital Deafness, Retinitis Pigmentosa
- How many people
- 28 participants
- Where
- 6 sitesRussia
- Study dates
- 17 May 2017to 1 Jun 2018
- How long will I take part?
- 8 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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:
Show all 9Show fewer
- 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
Who cannot join
- 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
Trial locations and contacts
6 sites in 1 country.
6 sites in 1 country
Russia6 sites
Federal State Budgetary Institution "Research Center for Medical Genetics"
Moscow, 115478
Deaf-Blind Support Foundation "Con-nection"
Moscow, 117593
State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
Moscow, 123098
Scientific and Clinical Center for Otorhinolaryngology of FMBA of Russia
Moscow, 123182
Oftalmic LLC
Moscow, 125167
Autonomous nonprofit organization "Scientific and industrial laboratory "Sensor technology for deafblind"
Moscow, 129085
About this study
Official title: Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
This study is aimed to characterize Russian population of Usher patients.
Read the 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.
- Conditions
- Usher Syndrome, Congenital Deafness, Retinitis Pigmentosa
- Medical subject headings
- Usher Syndromes, Retinitis Pigmentosa
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in visual acuity
Measured by visometry
Measured: Up to 4 weeks
Changes in structures of fundus of the eye-1
Measured by ophthalmoscopy
Measured: Up to 4 weeks
Changes in structures of fundus of the eye-2
Measured by optical coherence tomography
Measured: Up to 4 weeks
Changes in visual field
Measured by perimetry
Measured: Up to 4 weeks
Changes in retinal ganglion cell dysfunction
Measured by electroretinography
Measured: Up to 4 weeks
Changes in brain visual cortex neural pathways
Measured by visually evoked potentials
Measured: Up to 4 weeks
Changes in optical refraction
Measured by refractometry
Measured: Up to 4 weeks
Changes in intraocular pressure
Measured by pneumotonometry
Measured: Up to 4 weeks
Changes in the lens, cornea, anterior segment of the eye
Measured by biomicroscopy
Measured: Up to 4 weeks
Changes in hearing-1
Measured by tonal audiometry
Measured: Up to 4 weeks
Changes in hearing-2
Measured by electronic audiometry (ASSR test)
Measured: Up to 4 weeks
Changes in efficient sound transmission in the middle ear
Measured by acoustic impedance measurement
Measured: Up to 4 weeks
Changes in vestibular functions
Measured by vestibulometry
Measured: Up to 4 weeks
Changes in vestibular reactions
Measured by electronystagmography
Measured: Up to 4 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Oct 2017
- Study start17 May 2017
- Primary completion1 Apr 2018
- Study completion1 Jun 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Usher SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 28 participants (actual)
- Target duration
- 8 Months
Sponsor and investigators
- Lead sponsor
- Sensor Technology for Deafblind
- Sponsor type
- Industry (pharma, biotech, devices)
- 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
- Responsible party
- Sponsor
- Investigators
- Vladimir N Trubilin, MD, PhD, Prof, Principal investigator, State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03319524
- Sponsor's protocol ID
- RU-USH-09-2016
- Status last verified
- Apr 2019
- First submitted
- 2 Oct 2017
- Last updated
- 3 Apr 2019
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 30358468
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Prospective Open Label Clinical and Genetic Testing of Patients With Usher Syndrome
- ClinicalTrials.gov ID
- NCT03319524
- Acronym / sponsor ID
- RU-USH-09-2016
- Conditions
- Usher Syndrome, Congenital Deafness, Retinitis Pigmentosa
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 28 participants (actual)
- Lead sponsor
- Sensor Technology for DeafblindIndustry (pharma, biotech, devices)
- 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
- Study start
- 17 May 2017 (actual)
- Primary completion
- 1 Apr 2018 (actual)
- Study completion
- 1 Jun 2018 (actual)
- First posted
- 24 Oct 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 8 Months
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (9 listed)
- 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
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2019.
- Results publication: PubMed 30358468Ivanova 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.
- Individual participant dataSharing planned: Undecided
Related trials for Usher Syndrome
Active, not recruitingObservational study
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A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
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Not yet recruitingPhase 2
Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
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Active, not recruitingPhase 2
Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Vladimir N Trubilin, MD, PhD, Prof principal investigator
State Research Center Burnasyan Federal Medical Biophysical Center Federal Medical-Biological Agency
6 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Usher Syndrome and Congenital Deafness, run by Sensor Technology for Deafblind at 6 sites in Russia.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2019. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in visual acuity (time frame: Up to 4 weeks). The study lists 14 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03319524, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2019.