BOAZ discussed the problems of adult patients with orphan diseases

On December 15, the All-Russian Society of Rare (Orphan) Diseases (BOE) organized a discussion of problems and prospects for the development of medical care for adult patients with orphan diseases in the Izvestia press center.

"Ensuring the continuity of therapy, the state order for the maintenance of an all—Russian registry, and the creation of rehabilitation centers are all acute social problems that need to be addressed," said Ekaterina Zakharova, MD, Head of the Laboratory of Hereditary Metabolic Diseases at the Moscow State Medical University. Academician N. P. Bochkova, Chairman of the BOE Expert Council.

"The emergence of clinical recommendations and targeted pathogenetic therapy has increased the availability of treatment," says Sergey Klyushnikov, PhD, Senior researcher at the 5th Neurological Department of the Federal State Budgetary Budgetary Institution Scientific Center of Neurology. However, graduates of the Circle of Goodness Foundation face the unavailability of life-saving therapy. To a lesser extent, this applies to registered drugs and to a greater extent to unregistered drugs. The number of graduates of the Circle of Goodness will grow, innovative therapy is emerging, which means that the budget, the system of medical and genetic counseling, and social security will face additional strain."

"According to our surveys, less than 50% of adult patients have the opportunity to continue treatment, they seek it through the courts, face irregular supplies, unavailability of even basic therapy and outpatient care," said Irina Myasnikova, Chairman of the Board of the VOZ, member of the Board of Trustees of the Circle of Goodness Foundation. Government programs do not extend to modern drugs. For example, the VZN contains only one drug, a mucolytic for patients with cystic fibrosis. Innovative three-component targeted therapy, which qualitatively changes the lives of patients, remains unavailable."

"The immersion of diseases with registered therapy in 403 PP will make it possible to provide patients who remain without therapy due to lack of disability, including graduates of the Circle of Goodness Foundation, apply a reserve co-financing mechanism, estimate the total number of patients through the maintenance of a state register and develop a centralized procurement mechanism. Therapy was not continued for all graduates of the Foundation due to the lack of disability, it was not possible to protect the patient's interests even in court, the court noted that there were no grounds for organizing preferential drug provision. Diseases that do not have a registered therapy can be provided from 890 PP, which will stimulate the registration of drugs in Russia, while inter—budget transfers are also allocated for regional benefits," says Natalia Smirnova, a category I lawyer, member of the Expert Council on Rare diseases at the Committee on Health Protection under the State Duma of the Russian Federation, lawyer at the BOE.