Republic of Uzbekistan

Orphan diseases (or rare diseases) in Uzbekistan include hereditary and chronically progressive diseases that threaten life and lead to disability. The country's population is more than 37 million people, of which more than 12.9 million are children and adolescents (34.9%). According to official data, cases of diseases such as phenylketonuria, cystic fibrosis (mucoviscidosis), juvenile arthritis with systemic onset, bullous epidermolysis, thalassemia, spinal muscular atrophy (SMA), Gaucher disease and other hereditary diseases have been registered in the Republic.

Legal regulation

The legislation of Uzbekistan enshrines the main provisions aimed at improving the diagnosis, treatment and social support of patients with orphan diseases:

1. The Presidential Resolution No. PP-4440 of September 7, 2019 approved the Program of Measures for 2019-2024, including early diagnosis, treatment and social assistance to children with orphan diseases.
2. Amendments have been made to the Law "On Medicines and Pharmaceutical Activities", allowing the import of necessary medicines without state registration by order of the Ministry of Health.
3. The Constitution of Uzbekistan guarantees medical care and protection of the health of citizens, including access to treatment of rare diseases at the expense of the state.

To ensure early diagnosis and treatment of hereditary diseases, a multi-level system has been created in Uzbekistan:

• The Republican Specialized Scientific and Practical Medical Center for Pediatrics of Maternal and Child Health (RSSPMCZMiR) and its regional branches conduct neonatal and selective screening.
• The Republican Specialized Scientific and Practical Medical Center for Pediatrics (RSSPMCP), as part of the program for 2019-2024, has a laboratory with tandem mass spectrometry to detect lysosomal storage diseases such as Pompe, Gaucher, Niemann-Pick, Krabbe, Fabry and mucopolysaccharidosis type I. Conducts outpatient monitoring and inpatient treatment of children with cystic fibrosis and Gaucher disease.
• The National Children's Medical Center provides outpatient consultations and inpatient treatment of children with hereditary diseases.
• The Genodermatoses Center (based on the Republican Specialized Scientific and Practical Center for Dermatology, Venereology and Cosmetology with the support of the NGO "Kapalak-bolalar") provides outpatient and inpatient treatment for patients with bullous epidermolysis and congenital ichthyosis.

The state provides free medications and special nutrition for children with phenylketonuria, congenital hypothyroidism, cystic fibrosis, bullous epidermolysis, congenital ichthyosis and other diseases. An example is the financing of dornase alpha therapy for children with cystic fibrosis and the use of genetically engineered drugs to treat juvenile arthritis.

To support the families of patients, there is a Public Fund that finances treatment and rehabilitation. Scientific research in the field of diagnostics and therapy is carried out in cooperation with foreign institutions, such as the University of Ulm in Germany.

The key challenges remain the creation of a national registry of orphan diseases, increasing the coverage of screening, developing new methods of diagnosis and rehabilitation, as well as improving the training of specialists. The plans include the introduction of successful global practices in finding sources of funding and strengthening interdepartmental cooperation.

The Republic of Uzbekistan is taking active steps to improve the system of care for patients with orphan diseases, which is confirmed by the creation of new laboratories, diagnostic and social support programs, as well as the inclusion of orphan diseases in the priorities of the State Policy.

1. PP-4440 of 09/07/19 "On measures to further improve medical and social care for children with rare (orphan) and other hereditary-genetic diseases"
2. Order of the Minister of Health of the Republic of Uzbekistan No. 122 of 06/08/2020 "On approval of the list of orphan drugs intended for the treatment of rare diseases, as well as the diagnosis and treatment of rare (orphan) diseases"
3. Resolution of the President of the Republic of Uzbekistan dated 04/25/2022 No. PP-217 "On measures to create a system for providing medical and social assistance and free delivery of drugs to sick children diagnosed with spinal muscular atrophy"
4. Resolution of the President of the Republic of Uzbekistan dated April 25, 2022 No. PP-216 "On Strengthening the Protection of Motherhood and Childhood in 2022-2026"