title: Translation of rare disease research into orphan drug development: disease matters.
abstract: More than 25 years of orphan drug regulations have yielded several new treatments for patients with rare diseases. Here, we show that successful translation of rare disease research into an orphan drug discovery and development programme is dependent on the disease class, its prevalence and the disease-specific scientific output. Our findings indicate that current orphan drug legislation alone is not sufficient to stimulate orphan drug development for diseases with a very low prevalence. Consequently, additional incentives should focus on stimulating the specific needs of rare disease research at disease class level.
authors.affiliation: Utrecht Institute for Pharmaceutical Sciences, Utrecht University, The Netherlands.
authors.forename: Harald E
authors.initials: HE
authors.lastname: Heemstra
authors.forename: Sonja
authors.initials: S
authors.lastname: van Weely
authors.forename: Hans A
authors.initials: HA
authors.lastname: Büller
authors.forename: Hubert G M
authors.initials: HG
authors.lastname: Leufkens
authors.forename: Remco L A
authors.initials: RL
authors.lastname: de Vrueh
mesh_terms: D017277:Drug Approval; D015195:Drug Design; D004345:Drug Industry / Q000191:economics*; D006801:Humans; D007880:Legislation, Drug; D009042:Motivation; D009965:Orphan Drug Production; D035583:Rare Diseases / Q000188:drug therapy*; D012106:Research