Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology

Dear Colleagues,

Orphan drug can be defined as a medicine for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition that is rare (affecting not more than five in 10,000 people) or where the medicine is unlikely to generate sufficient profit to justify research and development costs.

The last decade brought important innovations especially regarding the treatment of rare neurological and systemic diseases with neurological complications. The best demonstration of the latter is visible in the pharmacotherapy spectrum for spinal muscular atrophy, since three orphan medicines are registered and available for the same disease—nusinersen, risdiplam, and onasemnogene abeparvovec-xioi.

Randomised clinical trials in rare diseases generally include small, homogeneous groups of patients. This is the reason why various patient populations are under-represented in clinical trials and real-world data collection and disease registry networks are essential to support orphan medication’s effectiveness, safety, and tolerability. The latter can also be used to better understand disease natural histories, improve standards of care, provide opportunities to connect patients with the research community, and monitor patient outcomes, both from a clinical and regulatory perspective. New developments in personalized therapeutics pose significant concerns over orphan medicine pricing and cost-effectiveness, despite the possibility of improving patient health, functionality, and well-being as well as lowering supportive care expenses; thus critical and extensive assessment covering all aspects and perspectives is inevitable.

In this Special Issue on “Real-World Perspective on Effectiveness, Safety, and Costs of Orphan Medicines in Neurology”, we aim to publish outstanding contributions in the key fields covered by the journal, which will make a great contribution to the community.

Thus, we believe that the JPM is an excellent platform to support such overview on the current real-world knowledge and novelties regarding effectiveness, safety and costs or orphan medicines in neurology.

We hope that our special issue will draw the attention of the readers, scientists, stakeholders and clinicians in general.

Prof. Dr. Dinko Vitezić
Dr. Andrej Belančić
Guest Editors

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• effectiveness
• neurology
• orphan medicines
• pharmacoeconomy
• rare diseases
• real-word data
• spinal muscular atrophy