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Orphan diseases: state of the drug discovery art

Seltene Krankheiten: Aktueller Stand der Pharmaforschung

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Summary

Since 1983 more than 300 drugs have been developed and approved for orphan diseases. However, considering the development of novel diagnosis tools, the number of rare diseases vastly outpaces therapeutic discovery. Academic centers and nonprofit institutes are now at the forefront of rare disease R&D, partnering with pharmaceutical companies when academic researchers discover novel drugs or targets for specific diseases, thus reducing the failure risk and cost for pharmaceutical companies. Considerable progress has occurred in the art of orphan drug discovery, and a symbiotic relationship now exists between pharmaceutical industry, academia, and philanthropists that provides a useful framework for orphan disease therapeutic discovery. Here, the current state-of-the-art of drug discovery for orphan diseases is reviewed. Current technological approaches and challenges for drug discovery are considered, some of which can present somewhat unique challenges and opportunities in orphan diseases, including the potential for personalized medicine, gene therapy, and phenotypic screening.

Zusammenfassung

Seit 1983 sind mehr als 300 Medikamente für seltene Krankheiten entwickelt und zugelassen worden. In Anbetracht dessen aber, wie rasant sich einerseits neue Diagnostik-Werkzeuge entwickeln und andererseits die Anzahl seltener Krankheiten zunimmt, hinkt die Arzneientwicklung hinterher. Wissenschaftliche Zentren und gemeinnützige Organisationen stehen nun an der Spitze der Forschung und Entwicklung für seltene Krankheiten. Sie arbeiten mit Pharmakonzernen zusammen, wenn akademische Forscher neue Medikamente oder Targets für einzelne Krankheiten entdecken, und reduzieren somit das Risiko des Misslingens als auch die Kosten für besagte Konzerne. Es hat beträchtliche Fortschritte auf dem Gebiet der Pharmaforschung für seltene Krankheiten gegeben, und es besteht inzwischen eine Art symbiotischer Beziehung zwischen der Pharmaindustrie, der akademischen Welt und Philanthropen, welche ein nützliches Gerüst für die Entwicklung neuer Arzneimittel für seltene Krankheiten bietet. Die vorliegende Arbeit fasst den aktuellen Stand der Pharmaforschung für seltene Krankheiten zusammen. Ferner beleuchtet sie die aktuellen technologischen Ansätze und Hürden der Arzneimittelentwicklung, die zum Teil einzigartige Chancen und Herausforderungen mit sich bringen, einschließlich potentieller Verwendungen in Zusammenhang mit personalisierter Medizin, Gentherapie und phänotypischem Screening.

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Correspondence to Shaun P. Brothers PhD.

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C.-H. Volmar, C. Wahlestedt, and S. P. Brothers declare that there are no actual or potential conflicts of interest in relation to this article.

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Volmar, CH., Wahlestedt, C. & Brothers, S. Orphan diseases: state of the drug discovery art. Wien Med Wochenschr 167, 197–204 (2017). https://doi.org/10.1007/s10354-015-0423-0

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