RARE DISEASES. INNOVATIVE APPROACHES IN THERAPY, PATIENT CARE AND CREATION OF DOMESTIC PRODUCTION OF ORPHAN DRUGS
Innovative approaches in the therapy of rare diseases were discussed by participants in an expert session at the ‘Ensuring Drug Security’ Russian Pharmaceutical Forum. The event took place on 5 June 2024, the opening day of the St. Petersburg International Economic Forum.
The meeting was attended by Archpriest Alexander Tkachenko, Chairman of the Board of Directors of the Circle of Goodness Foundation, Chairman of the Commission of the Public Chamber of the Russian Federation on Social Partnership, Care and Development of Inclusive Practices: “The creation of the Foundation has truly transformed the system of care by adding access to innovative technologies and the latest developments in medicines. The Foundation is easy to access, both for professionals who know which technologies have been validated for efficacy and safety and have received registration in a country with a strong regulatory environment, and for parents. The Foundation’s Expert Council, whose composition is determined by the Government of the Russian Federation, considers all requests for new medicines. We have considered several hundred requests and proposals from companies, specialists and patient communities. Of these, the Foundation included in the list 106 names of drugs and medical devices that experts considered to have sufficient evidence. In fact, the Foundation has made them available to Russian children”.
Orphan diseases are a heavy medical and social burden for any country. About 70% of diseases are genetic in nature. They are progressive and lead to disability or early death. At the same time, their rarity makes them hard to diagnose, while insufficient data on them does not allow us to determine their prevalence, and therefore does not allow pharmaceutical companies to forecast the potential market and rationality of investments. Due to the small number of patients with orphan diseases in some countries, there are problems with conducting local clinical trials. These factors narrow the possibilities of providing medicines for patients with orphan diseases. In order to expand such opportunities and to stimulate the market for innovative orphan drugs, it is necessary to strengthen the tools of international cooperation – from developing therapies, conducting clinical full-scale trials, collecting and analyzing data of real clinical practice and creating common registers to consolidating demand and developing mechanisms for joint international procurement. Against the background of economic sanctions in Russia, it is necessary to solve the problem of access to innovative pharmaceutical technologies through the development of national technological sovereignty.
According to Inga Nizharadze, General Director of Skopinpharm LLC, government support is necessary for the development of domestic production of orphan drugs, including development, all phases of clinical trials and further commercial production of drugs: “The difference between rare diseases is a much smaller number of cases, and accordingly the production volumes of orphan drugs for the treatment of such patients seriously differ from mass consumption drugs. Subsidies or long-term subsidized loans provided by the government for domestic production with a long (at least 10 years) investment return could help a lot”.
The session participants discussed the ways to ensure the development of domestic R&D in the field of molecular genetic diagnostics of orphan diseases. Other topics included ways to promote the creation of patient registries, regulatory and financial practices that can stimulate the development of innovative orphan drugs, ways to ensure the availability of orphan drugs, including for adult patients, and effective tools to support the provision of medicines to patients with orphan diseases that can be borrowed from the international drug market.
