Orphan diseases in Kazakhstan are defined as rare severe diseases that threaten life or lead to disability, the incidence of which does not exceed 50 cases per 100 thousand population. In 2023, the most common orphan diseases included rare forms of epilepsy, glucose transporter deficiency syndrome (Glut1), non-specific ulcerative colitis, multiple sclerosis, high-grade glial tumors and systemic connective tissue lesions.
The legal framework in the field of orphan diseases in Kazakhstan is regulated by a number of legislative acts:
- The Code of the Republic of Kazakhstan "On Public Health and the Healthcare System" dated July 7, 2020, which includes provisions on the guaranteed volume of free medical care (GVFMC).
- Order of the Minister of Health dated October 16, 2020 No. ҚР ДСМ-135/2020, which approved the rules for forming a list of orphan diseases and drugs for their treatment.
- Regulations on the inclusion of unregistered drugs in the Kazakhstan National Drug Formulary for the treatment of orphan diseases.
Treatment of orphan diseases in Kazakhstan is carried out within the framework of the GVFMC and the compulsory social health insurance system (CHI). For this purpose, the following is provided:
- The list of orphan diseases and drugs for their treatment, which is revised every three years. It includes 66 diseases and 152 international non-proprietary names of drugs.
- The use of palliative care methods for patients with incurable diseases.
- The possibility of a one-time import of drugs not registered in the country for vital indications.
Funding for the treatment of orphan diseases is carried out at the expense of the State Fund for Medical Care and the Compulsory Medical Insurance. The most expensive diseases include mucopolysaccharidoses, spinal muscular atrophy (SMA), Duchenne muscular dystrophy and other sphingolipidoses. In 2023, the treatment of such diseases required significant financial costs allocated to support patients.
The key tasks for improving care for patients with orphan diseases are:
- Expanding the list of orphan drugs and diseases based on new clinical data.
- Strengthening the national patient registry.
- Introducing new methods of diagnosis, treatment and rehabilitation.
- Improving the qualifications of medical personnel and developing clinical protocols.
Kazakhstan demonstrates a progressive approach to the treatment of orphan diseases, supporting patients through the guaranteed volume of medical care and compulsory health insurance, including systematic updating of the list of drugs based on pharmacoeconomic studies to assess the costs and effectiveness of treatment.