IV Interregional Online Conference on Cystic Fibrosis
The IV Interregional Online Conference on Cystic Fibrosis “Results of the 42nd European Congress on Cystic Fibrosis” was held on 10 June 2019.
The school organizers were the FSBI Academician Bochkov Research Centre for Medical Genetics, All-Russian public organization “Russian Society of Medical Geneticists”, SBIH MR “Moscow Regional Consultative and Diagnostic Center for Children”.
The Conference was broadcast on YouTube, and was available for viewing to all pre-registered. In total, registered were 170 participants from 38 regions of Russia, Belarus, Ukraine, Lugansk (LPR), and Kazakhstan. Cystic fibrosis specialists, parents of children with cystic fibrosis and patients, attended the Conference.
Izhevskaya V. L., Deputy Director for Research, FSBI Research Centre for Medical Genetics, and President of the Russian Society of Medical Geneticists opened the IV Interregional Online Conference. A welcoming address by Kutsev S.I., the Director of Federal State Budget Institution Research Centre for Medical Genetics, Chief external expert in medical genetics of the Russian Federation Ministry of Health was read out. Izhevskaya V.L. noted that it had become a good tradition to hold the online conferences, where the researchers of the FSBI RCMG, the participants of the European Congress on Cystic Fibrosis, had an opportunity to share new information with representatives of the professional community, patient organizations from all regions of the Russian Federation and other countries. They indicated that 2019 was a year of intensive work, and the XIV National Congress on Cystic Fibrosis was held.
Professor Kondratyeva E.I., Doctor of medical science, head of the Research and Clinical Cystic Fibrosis Department of FSBI RCMG, the head of the Russian Center for Cystic Fibrosis, informed the participants that representatives of not only European countries, but also all continents, participated in the 42nd European Congress on Cystic Fibrosis. She noted that in 2019 the number of conference participants increased up to 2595 participants from 58 countries. The Russian delegation included 14 experts. They presented 6 oral reports and, 25 poster reports. Kondratyeva E.I. and Kashirskaya N.Yu. took part in the work of neonatal screening, diagnostic, registry, and clinical recommendation groups. The main theme of the European Congress was the personified diagnosis and targeted therapy of cystic fibrosis. They discussed methods of neonatal screening, genetic diagnosis, and radiation diagnosis, as well as new opportunities for systemic and inhaled antibiotic therapy.
The conference placed major emphasis on new functional methods for determining the activity of the CFTR channel to determine the pathogenetic significance of rare mutations and cystic fibrosis diagnosis. Functional methods include determination of nasal and intestinal potentials and intestinal organoids. The same methods applied to evaluate the effectiveness of targeted therapy for cystic fibrosis. The Congress discussed the possibility of treating patients with the F508del mutation (lumacaftor, tezacaftor). The results of therapy with Kalideko, Orkambi, Simdeko medications were reported. New comprehensive drugs are being developed for the cystic fibrosis targeted therapy (triple therapy — two correctors and one potentiator). The goal of targeted therapy developers is to create new drugs that will benefit a large number of patients with cystic fibrosis, including people with one F508del mutation and class 1 mutations. The first results of Eloxx Pharmaceuticals on eukaryotic ribosomal selective glycoside (ERSG) designed to increase reading activity during nonsense mutations were reported. Clinical trials have shown that second-generation modulators will be combined-action drugs, including potentiators, correctors, amplifiers, stabilizers in various combinations.
Amelina E.L., Candidate of medical science, Research Institute of Pulmonology, FMBA of Russia, reported on new pathogenetic therapy for patients with cystic fibrosis – the second-generation modulators. Phase 3 studies showed that the combination of VX-445 + tezacactor + ivacaftor increases FEV1 by 13.8% from the initial level at week 4 of therapy in people with the F508del genotype with one mutation with minimal functional channel activity compared to placebo, and 10.0% of the initial level in people with the F508del / F508del genotype who received tezacactor and ivacaftor, compared to a placebo control group. Another second-generation modulator (VX-659 + tezakaftor + ivakaftor) showed a similar result. She noted that 2020 was designated as a year of release of new drugs, which would allow receiving pathogenetic therapy for 90% of patients with cystic fibrosis
Chernukha M.Yu., Doctor of medical science, FSBI Gamaleya Research Institute of Epidemiology and Microbiology, Ministry of Health of Russia, and Voronina O.L., Candidate of biological science, Assistant Professor of FSBI Gamaleya RIEM noted new opportunities in the diagnosis of microbial process and the need for continuous monitoring of the infectious process. They discussed the rules for microbiological examination, peculiarities of microbiota and microbiome in patients with cystic fibrosis.
Sherman V.D., senior researcher of the Cystic Fibrosis Research and Clinical Department at FSBI RCMG reported on the symposium “New Therapy for Respiratory Organs”, which was devoted to the development of new methods of treatment aimed at correcting respiratory disorders, as well as the best methods for assessing their effectiveness. They reviewed the CF existing and perspective anti-inflammatory treatments, and discussed the use of new mucoactive drugs and the role of new antimicrobial agents in the changing picture of lung diseases. Today, 45 new antibacterial drugs are undergoing clinical trials.
Zhekaite E.K., researcher of the Cystic Fibrosis Research and Clinical Department, reported on monitoring the treatment of patients with cystic fibrosis, on specific features of toxic and allergic complications of therapy, and possibilities of overcoming and preventing any adverse effects during therapy.
Marek Vosecky (Co-Founder and Project Lead) presented an adolescent application to improve adherence to therapy. His message aroused great interest. Collaboration with the development team for teenagers will continue.
All conference members had the opportunity to put a text message question to the reporter during his/her presentation. The members discussed issues of diagnosis, targeted therapy, and peculiarities of microbiological examination.