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primary topic: Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act
type: AcademicArticle
type: Article
abstract: Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of high morbidity often associated with premature death. More than 30 years ago the Orphan Drug Act of 1983 passed the United States legislation intended to facilitate the development of drugs for rare disorders. We directed our efforts in assessing which lysosomal diseases had drug development pressure and what distinguished those with successful development and approvals from diseases not treated or without orphan drug designation. Methods: Analysis of the FDA database for orphan drug designations through descriptive and comparative statistics. Results: Between 1983 and 2013, fourteen drugs for seven conditions received FDA approval. Overall, orphan drug status was designated 70 times for 20 conditions. Approved therapies were enzyme replacement therapies (N = 10), substrate reduction therapies (N = 1), small molecules facilitating lysosomal substrate transportation (N = 3). FDA approval was significantly associated with a disease prevalence higher than 0.5/100,000 (p = 0.00742) and clinical development programs that did not require a primary neurological endpoint (p = 0.00059). Orphan drug status was designated for enzymes, modified enzymes, fusion proteins, chemical chaperones, small molecules leading to substrate reduction, or facilitating subcellular substrate transport, stem cells as well as gene therapies. Conclusions: Drug development focused on more common diseases. Primarily neurological diseases were neglected. Small clinical trials with either somatic or biomarker endpoints were successful. Enzyme replacement therapy was the most successful technology. Four factors played a key role in successful orphan drug development or orphan drug designations: 1) prevalence of disease 2) endpoints 3) regulatory preced…
date: 2015
volume: 10
issue: 46
is part of: Orphanet Journal of Rare Diseases
author list: authors
type: EPrint
type: ArticleEPrint
is part of: repository
has document: Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (PDF)
has document: Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
subject: 610 Medizin

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (PDF)
type: Document
has file: 13023_2015_Article_262.pdf
has part: 13023_2015_Article_262.pdf

BioMed Central
type: Organization

Orphanet Journal of Rare Diseases
type: Collection
issn: 17501172

Georg Friedrich Hoffmann
type: Person
given name: Georg Friedrich
family name: Hoffmann

Konstantin Mechler
type: Person
given name: Konstantin
family name: Mechler

William K. Mountford
type: Person
given name: William K.
family name: Mountford

Markus Ries
type: Person
given name: Markus
family name: Ries

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
type: Document
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
type: Document
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Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act (Other)
type: Document
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primary topic: Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

610 Medizin
type: Concept
preferred label: 610 Medical sciences Medicine @en