Clinical trial NCT03901391: Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa
Official title: Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Retinitis Pigmentosa
Usher Syndromes
Lead sponsor: Sensor Technology for Deafblind
Sponsor class: INDUSTRY
Collaborators: name: Central Clinical Hospital under President Affairs
name: Deaf-Blind Support Foundation Con-nection
name: Federal State Budgetary Institution Moscow Helmholtz Eye Research Institute
name: Federal State Budgetary Institution Research Center for Medical Genetics
name: Oftalmic LLC
name: Center for Genetics and Reproductive Medicine Genetico
First posted: 2019-04-03
Enrollment: 130
Sex: ALL
Minimum age (years): 6
Maximum age (years): 65
Standard ages: CHILD
ADULT
OLDER_ADULT
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

Brief summary: This study is aimed to characterize Russian population of Retinitis Pigmentosa

Detailed description: 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:

* Visometry (with correction and without correction)
* Ophthalmoscopy
* Perimetry
* Optical coherence tomography
* Electroretinography
* Visually evoked potentials
* Refractometry
* Pneumotonometry
* Biomicroscopy
* Any additional examinations and consultations if necessary Medical record will be developed and maintained for each patient consisting results of extended clinical examination.

Statistical and bioinformatic analysis of detected genetic mutations in the study cohort will be performed.

Eligibility criteria: Inclusion Criteria:

* Patient fulfill the clinical characteristics for Retinitis Pigmentosa (AD, AR, X-linked, sporadic) as defined by the Retinitis pigmentosa consortium
* 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
* Congenital multiple development orbit and eye malformations

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

Primary outcomes:
measure: Changes in visual acuity
timeFrame: Up to 4 weeks
measure: Changes in structures of fundus of the eye-1
timeFrame: Up to 4 weeks
measure: Changes in structures of fundus of the eye-2
timeFrame: Up to 4 weeks
measure: Changes in visual field
timeFrame: Up to 4 weeks
measure: Changes in brain visual cortex neural pathways
timeFrame: Up to 4 weeks
measure: Changes in electroretinogram
timeFrame: Up to 4 weeks
measure: Changes in optical refraction
timeFrame: Up to 4 weeks
measure: Changes in intraocular pressure
timeFrame: Up to 4 weeks
measure: Changes in the lens, cornea, anterior segment of the eye
timeFrame: Up to 4 weeks
measure: Changes in central retinal profile
timeFrame: Up to 4 weeks
Secondary outcomes:
Other outcomes:
Locations:
city: Moscow
country: Russian Federation
facility: Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health
city: Moscow
country: Russian Federation
facility: Central Clinical Hospital under President Affairs
Study officials:
affiliation: Central Clinical Hospital under President Affairs
name: Dmitry S. Atarshchikov, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: