The experts discussed the need for a systematic approach to solving the problems of patients with orphan diseases.

On the eve of Rare Diseases Day, which is celebrated annually on the last day of February, representatives of the expert and patient communities assessed the effectiveness of their interaction with the authorities in the development of the orphan sphere at the Izvestia press center and outlined key issues that need to be addressed.

"It is necessary to move from the development of an expert roadmap to a federal program with specific metrics for changes in the orphan sphere. The first step in solving this problem is the creation of orphan patient registers," said Ekaterina Zakharova, MD, Head of the Laboratory of Hereditary Metabolic Diseases at the Federal State Budgetary Scientific Institution "MGNC".

Yuri Zhulev, co-chairman of the All-Russian Union of Patients, stressed that people with rare diseases need not only affordable therapy, but also comprehensive medical and social support measures. According to him, this can be achieved only through a high-quality dialogue with the authorities and the introduction of a patient-oriented approach in healthcare.

The meeting participants paid special attention to the problems of adult patients.

"The primary issues concern graduates of the Circle of Goodness Foundation and those who were diagnosed as adults. Having no disability, these patients are often forced through the courts to seek life—saving therapy in the regions," said the Chairman of the Board of the All-Russian Society of Rare (Orphan) Diseases Irina Myasnikova. Nelya Poghosyan, Deputy Chairman of the BOE Board, added that the situation is aggravated by the acute shortage of specialized specialists in the regions.

Natalia Smirnova, a lawyer at BOE, called for concrete solutions, recalling that we are talking about diseases with a high risk of mortality and severe disability.:

"There is a need to change the criteria for the inclusion of drugs in the state VZN program so that innovative funds can get there, and to increase the budget of the program. It is also necessary to expand the list of diseases in Decree No. 403 — it has not been updated since its creation in 2012. It is important to include the provision of graduates of the Circle of Goodness in Resolution No. 403 and raise the issue of co-financing entities from the federal budget."

A more detailed discussion of these and other issues will continue at the VIII All-Russian Orphan Diseases Forum Orphan Forum, which opens tomorrow.