Prospective Open Clinical and Genetic Study of Patients With Retinitis Pigmentosa

Retinitis Pigmentosa Clinical Trial

— RU-RP  

Official title:

Prospective Open Label Clinical and Genetic Testing of Patients With Retinitis Pigment

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03901391
• Other study ID #: RU-RP-03-2019
• Status: Completed
• Start date: March 26, 2019
• Est. completion date: October 20, 2020

Study information

• Verified date: May 2022
• Source: Sensor Technology for Deafblind
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This study is aimed to characterize Russian population of Retinitis Pigmentosa

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 130
• Est. completion date: October 20, 2020
• Est. primary completion date: October 19, 2020
• Gender: All
• Age group: 6 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Retinitis
• Retinitis Pigmentosa
• Usher Syndromes

Intervention

Diagnostic Test:
• Whole Exome Sequencing
Whole Exome Sequencing

Locations

Country	Name	City	State
Russian Federation	Central Clinical Hospital under President Affairs	Moscow
Russian Federation	Federal State Budgetary Institution "Moscow Helmholtz Research Institute of Eye Diseases" of the Ministry of Health	Moscow

Sponsors (7)

Lead Sponsor	Collaborator
Sensor Technology for Deafblind	Center for Genetics and Reproductive Medicine Genetico, Central Clinical Hospital under President Affairs, Deaf-Blind Support Foundation Con-nection, Federal State Budgetary Institution Moscow Helmholtz Eye Research Institute, Federal State Budgetary Institution Research Center for Medical Genetics, Oftalmic LLC

Country where clinical trial is conducted

Russian Federation, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Changes in visual acuity	Measured by visual acuity test	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 ophthalmoscopy	Up to 4 weeks
Primary	Changes in visual field	Measured by perimetry	Up to 4 weeks
Primary	Changes in brain visual cortex neural pathways	Measured by visually evoked potentials	Up to 4 weeks
Primary	Changes in electroretinogram	Measured by electroretinography	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 central retinal profile	Measured by optical coherent tomography	Up to 4 weeks