In Kazakhstan, parents of children with neurofibromatosis type I (NF1) are asking the Ministry of Health not to exclude the disease from the list of orphan (rare) diseases and to keep the drug selumetinib on the state list. This was reported by Qazaqyia.kz citing Kursiv Media.
The reason is a draft order from the Ministry of Health on a new list of orphan diseases and medicines for their treatment. The document was under public discussion until July 22, 2026.
After the discussion ends, the ministry must consider the comments received, after which the order may be signed and come into force after official publication.
The Ministry of Health is reviewing drug provision taking into account the level of evidence of drugs and the prevalence of the disease (no more than 10 cases per 100,000 population).
As stated by the department, it is for the first reason that selumetinib is proposed to be excluded from the list: due to insufficient evidence.
Neurofibromatosis type I (NF1) is a hereditary genetic disease in which benign tumors of nervous tissue form in the body.
The disease manifests itself in different ways: some patients only develop characteristic dark spots on the skin, while others develop large tumors, vision problems, bone deformities, chronic pain and neurological complications.
One of the most severe manifestations of the disease is plexiform neurofibromas. These are tumors that grow along large nerves, can quickly enlarge, cause severe pain, impair limb movement, internal organ function, and sometimes become inoperable. Selumetinib is used precisely for such severe patients.
Selumetinib (Koselugo) is a targeted drug registered in Kazakhstan for the treatment of children over three years of age with neurofibromatosis type I and inoperable plexiform neurofibromas. It can slow tumor growth and reduce their size.
This is the only targeted therapy registered in the country for children with a severe form of the disease.
According to the patient organization Zhan Zharygy, 66 children have been receiving selumetinib treatment in Kazakhstan since 2022. Parents note that thanks to the therapy, many children have been able to return to school, become more mobile, and experience pain less often.
Patients fear possible consequences for treatment funding.
Parents fear that if the disease and drug disappear from the list of orphan diseases, regional health departments will not be able to purchase medicines from local budgets, as there will be no basis for this. And many families cannot afford expensive treatment on their own.
In addition, parents recall that previously part of the purchases of the expensive drug was financed by the public fund Qazaqstan Khalqyna, but in 2025 it transferred the provision of orphan patients to local executive bodies. Therefore, state guarantees of drug provision have now acquired special importance for families.
The interests of families are represented by the public fund Zhan Zharygy. This is a patient organization that unites families of children with neurofibromatosis type I and protects their right to treatment.
The fund sent an official appeal to the Ministry of Health of Kazakhstan, as well as to the UNICEF Representative Office in Kazakhstan, asking to keep neurofibromatosis type I in the list of orphan diseases and not to exclude selumetinib from the list of state-paid drugs. According to the organization, this will ensure continuity of therapy for children who vitally need it.
The draft order has not yet been finally approved. The Ministry of Health's decision will be known after reviewing the results of the public discussion.
Earlier, Kursiv Health reported how more than 800 Kazakhstanis were left without their entitled free medicines in the Ulan district of the East Kazakhstan region.