Analysis of the prevalence of rare (orphan) diseases («List 24») and the dynamics of detection of children's patients in the subjects of the Russian Federation

The analysis of the prevalence of rare (orphan) diseases («List of 24») and the dynamics of detection of children’s patients in 85 subjects of the Russian Federation in the period 2013-2019 showed an annual increase in patients in the Federal register (2013 - 4962 patients, 2014 - 6761, 2015 - 7038, 2016 - 7625, 2017 - 8245, 2018 - 8639, 2019 - 9088). The dynamics of the share of children with diseases from the “List of 24” among all patients fluctuated within small limits (on average 50%). Most of the diseases (16 out of 24) are mostly between children, but they also occur in adults. The prevalence of diseases varied significantly between the subjects of the Russian Federation. Improving awareness, as well as maintaining a Federal register promote effective detection and timely treatment in children. However, the low prevalence of diseases that occur before the 1st year of life indicates the complexity of their diagnosis and lack of detection.

life-threatening and chronic progressive rare (orphan) diseases, list of 24, drugs, healthcare, detectability, prevalence, state guarantee program, Russian Federation