Rare (orphan) diseases in the Russian Federation are those that occur with a frequency of no more than 10 cases per 100,000 population. Currently, more than 8,000 rare diseases are known, most of which are genetic and manifest in childhood. Among the most common in Russia are spinal muscular atrophy (SMA), cystic fibrosis, Gaucher disease, phenylketonuria, hemophilia and others.
Epidemiology of rare diseases in Russia
According to the Russian Ministry of Health, today there are about 290 rare diseases in the Russian Federation, for many of which clinical recommendations have been developed, and the federal patient register is maintained for 17 diseases and includes 21,444 people, of which 14,705 need not only medications, but also specialized nutrition (data as of the end of 2023). However, given the nature of many rare diseases and the difficulties of diagnosis, the actual number of patients may be significantly higher.
Sources:
- Number of patients: http://komitet-zdorov.duma.gov.ru/novosti/ad4a9199-a302-492b-b243-2ab420ccf902
- List of rare diseases of the Ministry of Health of Russia: https://minzdrav.gov.ru/documents/9803-perechen-redkih-orfannyh-zabolevaniy
Diagnostics of rare diseases
Diagnostics of rare diseases is organized through:
- Neonatal screening:
- Since 2023, the screening program has been expanded to 36 diseases, including adrenogenital syndrome, congenital hypothyroidism, cystic fibrosis, phenylketonuria, SMA and metabolic disorders.
- Screening covers 98% of newborns and is carried out at 24–48 hours of life (in full-term) or on the 7th day (in premature babies).
- Diagnostic centers:
Specialized medical institutions conduct biochemical and molecular genetic studies confirming the diagnosis.
Patient support programs
The following programs are in place in Russia to provide medicines to patients with rare diseases:
- The “14 High-Cost Nosologies” Program
It is financed from the federal budget and covers the following diseases:
- Hemophilia
- Cystic fibrosis types I, II, VI
- Pituitary dwarfism
- Gaucher disease
- Malignant neoplasms of lymphoid, hematopoietic and related tissues
- Multiple sclerosis
- Hemolytic uremic syndrome
- Juvenile arthritis with systemic onset
- Mucopolysaccharidosis types I, II and VI
- Aplastic anemia
- Hereditary deficiency of factors II (fibrinogen), VII (labile), X (Stewart-Prower)
- Condition after organ and tissue transplantation
- List of life-threatening and chronic progressive rare (orphan) diseases leading to a reduction in the life expectancy of citizens or their disability
Funded from regional budgets and includes 17 diseases:
- Paroxysmal nocturnal hemoglobinuria (Marchiafava-Micheli)
- Idiopathic thrombocytopenic purpura (Evans syndrome)
- Defect in the complement system
- Premature puberty of central origin
- Disorders of aromatic amino acid metabolism (classical phenylketonuria, other types of hyperphenylalaninemia)
- Tyrosinemia
- Maple syrup urine disease
- Other types of branched-chain amino acid metabolism disorders (isovaleric acidemia, methylmalonic acidemia, propionic acidemia)
- Fatty acid metabolism disorders
- Homocystinuria
- Glutaric aciduria
- Galactosemia
- Other sphingolipidoses: Fabry disease (Fabry-Anderson), Niemann-Pick
- Acute intermittent (hepatic) porphyria
- Copper metabolism disorders (Wilson disease)
- Incomplete osteogenesis
- Pulmonary (arterial) hypertension (idiopathic) (primary)
- Circle of Good Foundation
Supports children with severe rare diseases. Funding is provided by the federal budget. The foundation provides treatment for more than 80 diseases, including:
- SMA
- Gaucher disease
- Pompe disease
- Duchenne-Becker muscular dystrophy
- Hemophilia
- Primary immunodeficiencies