Changes to the list of orphan diseases and drugs have come into force in Kazakhstan

Amendments to the list of orphan diseases and medications for their treatment came into force in the Republic of Kazakhstan on December 19, 2025. The amendments were approved by Order No. 159 of the Ministry of Health of the Republic of Kazakhstan dated December 4, 2025.

Earlier, in 2025, Kazakhstan adopted important clarifications to its regulatory approach to orphan diseases. By Order No. 108 of the Minister of Health of the Republic of Kazakhstan dated October 21, 2025 (registered with the Ministry of Justice of the Republic of Kazakhstan on October 21, 2025, No. 37180), an updated definition of orphan disease was established:

Prevalence: no more than 10 cases per 100,000 population (previously, the criterion of up to 50 cases per 100,000 was used).

Furthermore, a provision on funding drug provision for patients with rare diseases has been added to the Code on Public Health and the Healthcare System:

"Provision of drugs for the treatment of orphan diseases is carried out within the guaranteed volume of free medical care and from other sources in the manner determined by the authorized body."

The adopted Order No. 159 is aimed at updating the list, taking into account modern clinical and regulatory approaches and covers several key areas: immunology, neuromuscular diseases, epilepsy, rare metabolic disorders, and oncology.

Immunology and Primary Immunodeficiencies

Expanded drug options for patients include the use of human C1 esterase inhibitor, lanadelumab, intravenous and subcutaneous immunoglobulins, and interferon gamma. These updates cover both primary immunodeficiencies and hereditary angioedema.

Neuromuscular Diseases

The relevant section has been significantly updated. Access to modern medications—nusinersen, risdiplam, and riluzole—has been strengthened for patients with spinal muscular atrophy and motor neuron disease.

The list of rare muscular dystrophies has been expanded, allowing the use of deflazacort, ataluren, eteplirsen, and golodirsen. For these conditions, molecular genetic confirmation of diagnosis in accredited laboratories is mandatory.

Rare and drug-resistant forms of epilepsy

The list of treatment drugs has been expanded, allowing for the inclusion of severe and genetically determined forms of epilepsy in accordance with current clinical guidelines.

Rare Metabolic Disorders and Oncology

A separate innovation is the inclusion of treatment for Glut-1 glucose transporter deficiency syndrome using triheptanoin.

The oncology section updates approaches to the treatment of neuroblastoma, including the use of modern immunotherapy with dinutuximab beta.

Exclusions from the List

At the same time, diseases that are no longer considered orphan diseases according to current clinical and regulatory criteria, including multiple sclerosis and malignant glial tumors of the brain, have been excluded from the list.

Overall, the changes that have come into effect reflect a transition to a more precise, nosologically and genetically verified approach in the drug supply system for patients with rare diseases.

Source: Order of the Ministry of Health of the Republic of Kazakhstan dated December 4, 2025, No. 159 (https://docs.google.com/document/d/1DUwspexOKrLPbc-RD9uz4UeEMq0E2UWU/edit?usp=sharing&ouid=1...)