Pharmacology of Rare Diseases: Therapeutic Access for Orphan Medicines
A special issue of Pharmaceuticals (ISSN 1424-8247). This special issue belongs to the section "Pharmacology".
Deadline for manuscript submissions: 1 December 2026 | Viewed by 152
Editor
Interests: cardiometabolic diseases; clinical pharmacology; evidence-based medicine; pharmacoeconomics; pharmacovigilance; real-world evidence
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Rare diseases collectively affect millions of people worldwide, yet the development and availability of effective therapies remain limited by small patient populations, heterogeneous disease presentation, insufficient natural history data, and significant scientific, regulatory, and economic challenges. Recent advances in pharmacology—including precision medicine, gene and cell therapies, enzyme replacement therapies, and other advanced biologics—have substantially expanded the therapeutic landscape for rare diseases and accelerated the development of orphan medicines. Nevertheless, translating these innovations into accessible and clinically meaningful treatments requires robust preclinical and translational models, optimized clinical pharmacology strategies, innovative trial designs, adaptive regulatory pathways, and sustainable frameworks for long-term patient access.
This Special Issue aims to provide a comprehensive and multidisciplinary overview of the pharmacology of rare diseases, with particular emphasis on orphan medicines. The issue will cover the full continuum of orphan drug development, including target identification and mechanism-of-action studies, translational pharmacology, clinical evidence generation in small populations, regulatory science, post-marketing safety evaluation, and the role of real-world evidence and patient registries. In addition, the Special Issue seeks to explore current challenges and future perspectives related to equitable access, affordability, and sustainable innovation in rare disease therapeutics. By integrating scientific, clinical, regulatory, and policy perspectives, this collection intends to highlight emerging strategies and best practices that can improve the development, evaluation, and accessibility of therapies for patients living with rare diseases.
Dr. Andrej Belančić
Guest Editor
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare diseases
- orphan medicines
- clinical and translational pharmacology
- advanced therapy medicinal products
- adaptive clinical trials
- regulatory science
- real-world evidence
- post-marketing surveillance
- therapeutic access
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