20.500.12556/DKUM-96733 Problematika dostopa bolnikov z redkimi boleznimi do zdravil sirote magistrsko delo Access of patients with rare diseases to orphan drugs Zdravljenje redkih bolezni je ena najhitreje razvijajočih se vej medicine. Čeprav prizadenejo največ 5 na 10.000 oseb v Evropski uniji, je v evropskem prostoru okrog 30 milijonov oseb z redkimi boleznimi. Zaradi redkosti njihovega pojavljanja predstavljajo poseben izziv zdravstvenim sistemom vseh držav, ki se morajo soočati z visokimi cenami zdravil za njihovo zdravljenje, nezadostnimi dokazi o njihovi učinkovitosti in nezadovoljenimi potrebami bolnikov. Dostopnost do zdravil za redke bolezni se med državami razlikuje, kar je pogojeno s proračuni držav ter umeščanjem in oblikovanjem cen teh zdravil. V Republiki Sloveniji je večina odobrenih zdravil za zdravljenje redkih bolezni v celoti krita iz javnih sredstev. Financiranje razvoja zdravila sirote je novost v slovenski zakonodaji, saj jo poznamo od 4. decembra 2024. S sprejemom novele ZZrID-B se je omogočilo sofinanciranje znanstvenih študij na področju zadnjih predkliničnih faz in klinične faze razvoja zdravil za redke bolezni, ki ustrezajo definiciji zdravila sirote in so namenjena naprednemu zdravljenju pediatrične populacije. Slovenska zakonodaja omogoča dostop do zdravila sirote še preden zdravilo sirote dobi dovoljenje za promet z zdravilom po centraliziranem postopku v treh primerih, tj. klinično preskušanje, sočutna uporaba in interventni uvoz zdravila sirote. Ti mehanizmi omogočajo bolnikom z redkimi boleznimi predčasen dostop do zdravila sirote, kar izboljšuje njihov zdravstveni položaj in lajša trpljenje. The treatment of rare diseases is one of the fastest-evolving branches of medicine. Although they affect no more than 5 in 10,000 individuals in the European Union, there are approximately 30 million people living with rare diseases across Europe. Due to their low prevalence, they pose a unique challenge to national healthcare systems, which must contend with high drug prices, insufficient evidence regarding efficacy, and unmet patient needs. The accessibility of orphan drugs varies between countries, dictated by national budgets as well as reimbursement and pricing policies. In the Republic of Slovenia, the majority of approved drugs for the treatment of rare diseases are fully covered by public funds. The financing of orphan drug development is a recent addition to Slovenian legislation, introduced on 4 December 2024. The adoption of this legislative amendment enabled the co-financing of scientific studies in the final preclinical stages and the clinical development phases of drugs for rare diseases that meet the definition of an orphan drug and are intended for advanced therapy in the paediatric population. Slovenian legislation provides access to orphan drugs even before they receive marketing authorization via the centralized procedure in three specific cases: clinical trials, compassionate use, and the emergency importation of orphan drugs. These mechanisms give patients with rare diseases early access to treatment, thereby improving their clinical outcomes and alleviating suffering. redka bolezen zdravilo sirote promet z zdravili sočutna uporaba klinično preskušanje interventni uvoz URS ZZrID-B ZZdr-2 Uredba 141/2000. rare disease orphan drug marketing of medicinal products compassionate use clinical trial emergency import Constitution of the Republic of Slovenia ZZrID-B ZZdr-2 Regulation (EC) No 141/2000. true true false K. Wagner Slovenski jezik Angleški jezik Magistrsko delo/naloga 2026-01-26 17:30:02 2026-02-27 14:37:31 2026-02-28 03:16:19 0000-00-00 00:00:00 2026 0 Maribor 0 Maribor 1 spletni vir (1 datoteka PDF (58 str.)) 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 364.35:614.35(043.3) 269972483 MAG_Wagner_Klemen_2026.pdf MAG_Wagner_Klemen_2026.pdf 1 6B72B037D11A0A5B1B7B0CE1F10A9C93 8a8d92be291320e4433f095ef25af6cefe6d44f2c8459df150e07a9e4be020e8 28914309-0b24-11f1-baf9-00155d580e1a https://dk.um.si/Dokument.php?lang=slv&id=203379 Pravna fakulteta 0 0 0