Orphan drug development in alpha-1 antitypsin deficiency

• Verfasst von: Trudzinski, Franziska [VerfasserIn]
• Verfasst von: Presotto, Maria Ada [VerfasserIn]
• Verfasst von: Buck, Emanuel [VerfasserIn]
• Verfasst von: Herth, Felix [VerfasserIn]
• Verfasst von: Ries, Markus [VerfasserIn]
• Titel: Orphan drug development in alpha-1 antitypsin deficiency
• Verf.angabe: Franziska C. Trudzinski, Maria Ada Presotto, Emanuel Buck, Felix J. F. Herth & Markus Ries
• E-Jahr: 2022
• Jahr: 15. September 2022
• Umfang: 8 S.
• Fussnoten: Gesehen am 19.09.2022
• Titel Quelle: Enthalten in: Scientific reports
• Ort Quelle: [London] : Macmillan Publishers Limited, part of Springer Nature, 2011
• Jahr Quelle: 2022
• Band/Heft Quelle: 12(2022), Artikel-ID 15497, Seite 1-8
• ISSN Quelle: 2045-2322
• DOI: doi:10.1038/s41598-022-19707-2
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: Drug development
• Sach-SW: Medical research
• K10plus-PPN: 1816915750
• K10plus-PPN:
  Universitätsbibliothek
• Lokale URL UB: Zum Volltext

Abstract

Alpha-1 antitrypsin deficiency (AATD, OMIM #613490) is a rare metabolic disorder affecting lungs and liver. The purpose of this study is to assess the impact of the US orphan drug act on AATD by providing a quantitative clinical-regulatory insight into the status of FDA orphan drug approvals and designations for compounds intended to treat AATD. This is across-sectional analysis of the FDA database for orphan drug designations. Primary endpoint: orphan drug approvals. Secondary endpoint: orphan drug designations by the FDA. Close of database was 16 July 2021. STROBE criteria were respected. Primary outcome: one compound, alpha-1-proteinase inhibitor (human) was approved as an orphan drug in 1987 with market exclusivity until 1994. Secondary outcome: sixteen compounds received FDA orphan drug designation including protein, anti-inflammatory, mucolytic, gene, or cell therapy. Drug development activities in AATD were comparable to other rare conditions and led to the FDA-approval of one compound, based on a relatively simple technological platform. The current unmet medical need to be addressed are extrapulmonary manifestations, in this case the AATD-associated liver disease. Orphan drug development is actually focusing on (1) diversified recombinant AAT production platforms, and (2) innovative gene therapies, which may encompass a more holistic therapeutic approach.