The list of rare diseases is asked to be updated – Newspaper Kommersant No. 18 (7463) dated 02/01/2023

The Union of Patients and Patient Organizations for Rare Diseases initiated a discussion of the problems of accessibility of innovative treatment for patients with rare tumors in Russia at the site of the Public Chamber. Representatives of the patient and professional communities complain about the “sluggishness” of the Ministry of Health in updating the list of orphan diseases. This, according to the Patients’ Union, negatively affects the availability of innovative therapy, as it is associated with “certain difficulties” in the way of drug registration. The Ministry of Health emphasized that medical care for children, including the provision of medicines, is provided regardless of the presence of the disease in the list, the update of which is currently being considered.

About 55 types of cancer are missing from the Russian list of rare (orphan) diseases, the Union of Patients and Patient Organizations for Rare Diseases told Kommersant. In particular, this list does not include RET-positive malignant tumors – this is a severe disabling disease, regardless of tumor location, type and characteristics. About 630 new cases of such neoplasms are recorded in Russia per year, of which about 500 cases are for non-small cell lung cancer, 70 for salivary gland cancer, and 50 for thyroid cancer in the adult population. Approximately ten cases per year of RET-positive tumors of various localization occur in children.

The list of rare (orphan) diseases is established by the Russian Ministry of Health. From it, in particular, lists of life-threatening and chronic progressive rare (orphan) diseases (17 diseases) and 14 high-cost nosologies were formed. Patients included in these lists are provided with treatment from the funds of the regional and federal budgets of the Russian Federation.

The current version of the list of orphan diseases has not been updated since March 2022. For patients with cancer, this is a “huge period,” the Patients’ Union draws attention. “The lack of a clear procedure for updating the list of rare diseases formed by the Ministry of Health of the Russian Federation negatively affects the availability of innovative therapy for patients in Russia, as this is associated with certain difficulties in the way of registration of drugs for rare diseases, including malignant neoplasms,” came to conclusion in the Union of Patients and Patient Organizations for Rare Diseases following the results of a round table in the Public Chamber. The problem, the organization believes, will be solved by a “systematic and constructive” dialogue between healthcare regulators, the medical and patient communities.

President of the Union of Patients and Patient Organizations for Rare Diseases Alexander Kosenko told Kommersant that the civil society would like to see a “transparent and open” mechanism for forming a list of rare diseases. Now it has a declarative character: one or another disease is included in the list after appropriate requests from the professional community. At the same time, Mr. Kosenko noted, the inclusion criteria, the number of introduced and rejected diseases are unknown, and there are no requirements for the frequency of updating the document. “We asked the Ministry of Health to include solid RET tumors in this list. The Ministry of Health responded to us within 30 days that it had asked the professional community. Then the community, within the same period, replied that they had sent the answer to the Ministry of Health, and so on. Each such step is 30 days,” Alexander Kosenko gives an example. “At the moment, our journey has taken six months, during which time a large number of rare patients, unfortunately, lost their lives.”

Head of the Department of Drug Treatment of Tumors, MNII named after V.I. P. A. Herzen Alexander Fedenko, speaking at the round table, noted that in Russia it is proposed to consider diseases with a prevalence of no more than 10 cases per 100 thousand people (in Europe – 6 per 100 thousand people) as rare. “According to this scoring system, we have about 220 different nosologies that can be attributed to the group of rare tumors. Unfortunately, we can’t treat all of them, we don’t have medicines for everyone, but pharmaceutical companies are working in this direction,” said Mr. Fesenko. That is why, according to the oncologist, it is necessary to change the requirements not only for the formation of a list of rare diseases, but also for the registration of drugs for their treatment. Now the Ministry of Health of Russia makes a decision on the registration of medicines based on the results of multicenter clinical trials in the territory of the Russian Federation. In 2020, the government made an exception only for coronavirus vaccines: they were registered and introduced into civilian circulation before the completion of the third phase of clinical trials. “If we take sarcoma as an example of a rare oncology, then it takes about 27 years to conduct a multicenter study with normally selected groups. You understand that patients do not have this time,” said Alexander Fedenko. In his opinion, in Russia, the procedure for entering the market of new innovative drugs with an evidence base and effectiveness should be simplified due to the rarity of nosology and the complexity of conducting clinical trials.

Alexander Kosenko agrees with him: “Patients with lymphomas and fibromas suffer from their illnesses. There’s a chance a drug that didn’t go through the full cycle of the study could help them. It may not help, of course. But as a patient with a rare tumor, I will say: between a painful death and a painful life, people, as a rule, choose life.” Now, according to him, patients with rare cancers can only rely on general therapy, which in most cases is “not very effective.”

Oncological diseases (even those that experts conditionally call not very rare) are increasingly divided into subgroups and subspecies, becoming formally rare, explains the director of the Institute for Interdisciplinary Medical Research, scientific director of the Association of Oncologists of the North-West and researcher at the N.N. N. N. Petrova Anton Barchuk. This became possible thanks to the development of science: specialists have recently learned to identify many characteristics of tumors, such as characteristic mutations, molecular markers. “But there is a second trend: the complication and rise in the cost of treating cancer patients and expanding to this rather limited set of drugs that can and should be used,” Mr. Barchuk continues. “I think this is a separate issue: how to solve the issue of access to drugs, which is growing, but which are now very expensive.

The appeal of the Association of Oncologists of Russia to be included in the list of RET-positive malignant tumors is currently being considered by Galina Novichkova, chief freelance pediatric specialist oncologist-hematologist of the Russian Ministry of Health, the medical department told Kommersant. They added that in case of a positive conclusion, the tumors will be included in the list. The Ministry of Health emphasized that medical care for children, including the provision of medicines, is provided regardless of the presence of the disease on the list.

Natalya Kostarnova