Gene therapy is a rather advanced method of restoring vision to the disabled with retina impairments, particularly to the people suffering from a genetic disease (Usher syndrome). To run clinical trials in the near future and try to restore vision, it is necessary to select a group of volunteers and do a complex clinical research in genetics, ophthalmology and otorhinolaryngology.

Genetic’s research (Usher syndrome)

What do we do

Gene therapy is a rather advanced method of restoring vision to disabled people with retina impairments, particularly to the people suffering from a genetic disease (Usher syndrome). To run clinical trials in the near future and try to restore vision, it is necessary to select a group of volunteers and do a complex clinical research in genetics, ophthalmology and otorhinolaryngology.

Who will the results of the research help

The deaf-blind and blind people with a genetic disease (Usher Syndrome). In the near term (2018) only a group of deaf-blind persons chosen in the framework of the research will take part in the clinical trials of gene therapy (24 potential candidates), however ensuring mass access to the therapy is the main goal.

When will we get first results

August 2017

When is first gene therapy planned

In the most positive scenario first clinical research can take place in 2018

More on the Project

Name of the Project – «Genetics reseach (Usher syndrome)»

Aim of the Project:

Running observational clinical research with deaf-blind persons involved for a basic clinical-genetic description of a representative cohort of patients with Usher syndrome in Russia for further development and implementation of advanced methods of clinical-functional treatment.

Project timeline:

27.09.2016 – 20.10.2017

Partners:

The Deaf-Blind Support Foundation So-edinenie (Con-nection),

LLC «Oftalmic»,

Research Centre of Medical Genetics (RCMG) of the Russian Academy of Medical Sciences (RAMS),

Burnasyan Federal Medical Biophysical Center FMBA of Russia,

FSBI «Federal Scientific Clinical Centre of Otorhinolaryngology FMBA of Russia».

Project includes:

  • Clinical-genetic diagnostics of 24 patients from among the deaf-blind, which includes face-to-face consultations with profile specialists (genetics, ophthalmology, otorhinolaryngology) as well as running instrumental and laboratory research methods (17 diagnostic procedures);
  • Bioinformatic analysis of received sequencing data;
  • Organizing preservation of 24 patients’ biomaterial (dividing each of them into 3 equal in volume samples with a view to ensuring possibility of repeated sequencing) with samples’ recording (during three years);
  • Registration (or notification) Roszdravnadzor, Federal State Autonomous Research Institution «Centre of Information Technologies and Systems for Executive Power Authorities» about the test;
  • Research registration in the International Register of clinical trials of the US National Institutes of Health at ClinicalTrials.gov;
  • Preparing and publishing an article on the results of the research.

In case of successful implementation

Project will establish an opportunity to start first clinical trials of gene therapy in the Russian Federation aimed at restoring vision to deaf-blind patients with retinitis pigmentosa.

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