TABLE 3.
The supplementary list of life-threatening and chronic progressive rare diseases, leading to a reduction in life expectancy of citizens or their disability.
| No | Name of the disease |
| 1 | Spinal muscular atrophy |
| 2 | Pompe disease |
| 3 | Familial Mediterranean fever |
| 4 | Cryopyrin-associated periodic syndrome |
| 5 | Tumor necrosis factor receptor-associated periodic syndrome |
| 6 | Hypophosphatasia |
| 7 | Mucopolysaccharidosis IV A |
| 8 | Neuroblastoma |
| 9 | Duchenne-Becker muscular dystrophy |
| 10 | Cystic fibrosis, according to approved categories |
| 11 | Short bowel syndrome |
| 12 | Tuberous sclerosis |
| 13 | Diabetes mellitus type 1 in children aged 0–4 |
| 14 | Neuronal ceroid lipofuscinosis type II |
| 15 | Primary hyperoxaluria type I |
| 16 | Acute lymphoblastic leukemia |
| Acute myeloblastic leukemia | |
| T-lymphoblastic lymphoma | |
| Primary immunodeficiency | |
| To provide medical care using the innovative method “Treatment of malignant diseases of blood and hematopoietic organs and severe nonmalignant blood diseases and congenital immunodeficiencies. These treatments include high-dose chemotherapy, transplantation of allogeneic TSRαβ-depleted hematopoietic progenitors and personalized therapy with genetically engineered drugs" | |
| 17 | Epidermolysis bullosa |
| 18 | Lysosomal acid lipase deficiency |
| 19 | Hereditary retinal dystrophy caused by bi-allelic mutations in the RPE65 gene |
| Types | |
| Leber congenital amaurosis (type II) | |
| Retinitis pigmentosa (type 20) | |
| 20 | Congenital bile acid synthesis defect |
| Children | |
| Children with clinical manifestations of cholestasis syndrome | |
| Confirmed congenital bile acid synthesis disorder using molecular genetic testing | |
| 21 | Neurofibromatosis type 1 |
| 22 | Hyper-IgD syndrome/mevalonate kinase deficiency |
| 23 | Urea Cycle Disorder |
| Types: | |
| N-acetylglutamate synthetase (NAGS) deficiency; | |
| Carbamoyl phosphate synthetase 1 deficiency (CPSID) | |
| Ornithine Transcarbamylase Deficiency (Е72.4); | |
| Citrullinemia type 1 | |
| Argininosuccinic aciduria; | |
| Argininemia | |
| Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome | |
| Citrullinemia type II | |
| Lysinuric protein intolerance | |
| 24 | Lipodystrophy |
| 25 | Homozygous familial hypercholesterolemia |
| 26 | X-linked dominant hypophosphatemic rickets |
| 27 | NTRK fusion-positive cancers |