title: Trials and Tribulations: An Industry Perspective on Conducting Registrational Trials in Alpha-1 Antitrypsin Deficiency.
abstract: Registrational trials in rare and orphan diseases present complexities related to the identification of subjects, recruitment, logistical hurdles incumbent with far-flung study sites, and end points that are often less well defined than are those used in more common illnesses. Alpha-1 antitrypsin deficiency is an orphan disease of genetic origin that carries the additional challenges of variable penetration and slow disease progression. Registrational trials of augmentation therapy using plasma-derived alpha-1 antitrypsin carry all of the above-noted burdens, as well as competition from commercially available augmentation therapy in many countries.
authors: GlaxoSmithKline, Research Triangle Park, North Carolina.
authors: Mark S
authors: MS
authors: Forshag
mesh_terms: D001709:Biotechnology; D002986:Clinical Trials as Topic; D004345:Drug Industry; D006801:Humans; D035583:Rare Diseases / Q000188:drug therapy*; D012042:Registries; D015842:Serine Proteinase Inhibitors / Q000627:therapeutic use*; D000515:alpha 1-Antitrypsin / Q000627:therapeutic use*; D019896:alpha 1-Antitrypsin Deficiency / Q000188:drug therapy*
chemical_list: D015842:Serine Proteinase Inhibitors; D000515:alpha 1-Antitrypsin
keywords: alpha-1 antitrypsin deficiency; clinical trials; orphan diseases; rare diseases