An observational study in Retinitis Pigmentosa and Usher Syndromes, sponsored by Sensor Technology for Deafblind. Completed at 2 sites in Russian Federation. Open to participants aged 6 Years to 65 Years. Per ClinicalTrials.gov, last updated 2022-05-20.
Sponsored by Sensor Technology for Deafblind · Observational
This study is aimed to characterize Russian population of Retinitis Pigmentosa
This study is aimed to characterize Russian population of Retinitis Pigmentosa.
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 and from references. Patients with clinically confirmed Retinitis pigmentosa will be evaluated according to available data of the clinical examination.
Stage 2. 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. Stage 3. Clinical examination of patients.
Each patient will undergo the following diagnostic procedures according to the unified protocol:
Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will be performed.
34 studies on the registry are indexed under Usher Syndromes; 13 are open to participants now.
This study's enrollment of 130 is above the median of 100 across 15 observational studies indexed under Usher Syndromes.
Browse Usher Syndromes studies →Sensor Technology for Deafblind is the lead sponsor of 3 studies on the registry; 1 is open to participants now.
Counted across the registry records on this site, refreshed daily.
It is assumed that at least 130 patients of the Russian population of men and women aged 6 to 65 years, with verified diagnosis of Retinitis pigmentosa (AD, AR, X-linked or sporadic as defined by the Retinitis pigmentosa consortium), will take part in this research study.
Non-inclusion Criteria:
Exclusion Criteria:
Diagnostic Test: Whole Exome Sequencing
Whole Exome Sequencing
Changes in visual acuity
Measured by visual acuity test
Time frame: Up to 4 weeks
Changes in structures of fundus of the eye-1
Measured by ophthalmoscopy
Time frame: Up to 4 weeks
Changes in structures of fundus of the eye-2
Measured by ophthalmoscopy
Time frame: Up to 4 weeks
Changes in visual field
Measured by perimetry
Time frame: Up to 4 weeks
Changes in brain visual cortex neural pathways
Measured by visually evoked potentials
Time frame: Up to 4 weeks
Changes in electroretinogram
Measured by electroretinography
Time frame: Up to 4 weeks
Changes in optical refraction
Measured by refractometry
Time frame: Up to 4 weeks
Changes in intraocular pressure
Measured by pneumotonometry
Time frame: Up to 4 weeks
Changes in the lens, cornea, anterior segment of the eye
Measured by biomicroscopy
Time frame: Up to 4 weeks
Changes in central retinal profile
Measured by optical coherent tomography
Time frame: Up to 4 weeks
Plan to share: No
No publications or documents are linked to this record.
This study is completed, as verified in May 2022. You cannot join it, but the record below documents what was studied.
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Sensor Technology for Deafblind