The Human Rights Ombudsman of the Republic of Slovenia (Ombudsman) has been dealing with the issue of rare diseases since 2019. Since then, he has addressed several inquiries to the Ministry of Health (MZ) in this regard. In his inquiries, the Ombudsman has continuously checked how the activities for the preparation of the Register of Rare Non-Malignant Diseases and the preparation of the Work Plan in the field of rare diseases for the period 2021–2030 are progressing. The Ministry of Health replied that the field of rare diseases is one of the fastest-developing branches of medicine and that it is therefore difficult to meet all the needs for treatment and technological progress. The Ombudsman concludes the consideration of the mentioned topic with great satisfaction, since upon his repeated inquiry in February 2024, he was informed by the Ministry of Health that the Register had been established and that entry of the first patients had begun.

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The Human Rights Ombudsman of the Republic of Slovenia (Ombudsman) has been dealing with the issue of rare diseases since 2019. He primarily wanted to ascertain the situation is in the field of rare diseases, whether the Register of Rare Non-Malignant Diseases (Register) has now been established, how the implementation of the National Work Plan in the field of rare diseases is progressing, how palliative care for children with rare diseases is regulated, what the commitments, plan, and strategy of the Ministry of Health (MZ) are in this area, and he was also interested in the current activities of the MZ in relation to rare diseases.

During this time, he has addressed several inquiries to the MZ. The MZ replied that the field of rare diseases is one of the fastest-developing branches of medicine and that it is therefore difficult to meet all the needs for treatment and technological progress. Despite this, the MZ considered that the field of rare diseases in Slovenia is well regulated and that Slovenia follows developments and continuously introduces innovations into the health care system; it states that the financing of medicines is also well regulated and that it provides access to the most modern medicines to everyone who needs them, as Slovenia has a completely comparable systemic approach to the introduction of medicine financing as other countries. However, the MZ explained that a unified register has not yet been established; a working group was appointed for this purpose. The MZ emphasised that Slovenia is not completely without registries – there are already several well-functioning registries in which patients with rare diseases are managed (for example, for cancer, occupational diseases, haemophilia, etc.). In 2018, the MZ supplemented the Act on Data Collections in the Field of Health Care with the Register of Rare Non-Malignant Diseases, thereby enabling the introduction of a national register of rare diseases. In 2011, the Work Plan in the field of rare diseases was prepared and then adopted in 2012. This document was a kind of letter of intent, as it did not envisage any financial consequences nor were any funds foreseen for the implementation of the work plan. Although the Work Plan did not envisage financial consequences, major changes were made in the field of rare diseases (introduction of newborn screening for 18 congenital metabolic diseases; introduction of the National Contact Point for Rare Diseases; organisation of a national conference on Rare Disease Day every year; Slovenian healthcare providers cooperate with all twenty-four European reference networks, and are full members of nine European reference networks, etc.).

In his inquiries, the Ombudsman also regularly checked the progress of the activities for the preparation of the Register of Rare Non-Malignant Diseases and the preparation of the Work Plan in the field of rare diseases for the period 2021–2030.

The MZ informed us that the two working groups had started to perform their task, but due to the then coronavirus epidemic, the work in the field of rare diseases slowed down. The deadline for completing the tasks of both groups was (at that time) extended until 30 June 2021. Regarding the Register of Rare Non-Malignant Diseases, the MZ explained that its purpose is to process data on the incidence, prevalence, and survival of patients with rare diseases, and the monitoring, planning, and evaluation of health care, while the Register should also be the basis for epidemiological and clinical research. Beneficiaries of data from the collection are healthcare providers who send data to the National Institute of Public Health. In 2022, we received a notification from the MZ that the document establishing the Registry had been prepared and that the MZ was in the process of finding funds for its establishment.

The Ombudsman concludes the consideration of the mentioned topic with great satisfaction, since upon his repeated inquiry in February 2024, he received notification from the MZ that the Register had been established and that entry of the first patients had begun. The Ombudsman welcomes the establishment of the Registry. We are glad that the multi-year work that the Ombudsman monitored within the scope of his powers has borne fruit and that this will enable more effective monitoring and, at the same time, improved medical care for patients.9.4-34/2019