Literature DB >> 36254116

Designing clinical trials for rare diseases: unique challenges and opportunities.

Chiara Pizzamiglio1, Hilary J Vernon2,3, Michael G Hanna1, Robert D S Pitceathly1.   

Abstract

Orphan drug development is a rapidly expanding field. Nevertheless, clinical trials for rare diseases can present inherent challenges. Optimal study design and partnerships between academia and industry are therefore required for the successful development, delivery and clinical approval of effective therapies in this group of disorders.

Entities:  

Year:  2022        PMID： 36254116      PMCID： PMC7613711          DOI： 10.1038/s43586-022-00100-2

Source DB:  PubMed          Journal:  Nat Rev Methods Primers        ISSN： 2662-8449


  5 in total

1.  Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Authors:  Dominique P Germain; Derralynn A Hughes; Kathleen Nicholls; Daniel G Bichet; Roberto Giugliani; William R Wilcox; Claudio Feliciani; Suma P Shankar; Fatih Ezgu; Hernan Amartino; Drago Bratkovic; Ulla Feldt-Rasmussen; Khan Nedd; Usama Sharaf El Din; Charles M Lourenco; Maryam Banikazemi; Joel Charrow; Majed Dasouki; David Finegold; Pilar Giraldo; Ozlem Goker-Alpan; Nicola Longo; C Ronald Scott; Roser Torra; Ahmad Tuffaha; Ana Jovanovic; Stephen Waldek; Seymour Packman; Elizabeth Ludington; Christopher Viereck; John Kirk; Julie Yu; Elfrida R Benjamin; Franklin Johnson; David J Lockhart; Nina Skuban; Jeff Castelli; Jay Barth; Carrolee Barlow; Raphael Schiffmann
Journal:  N Engl J Med       Date:  2016-08-11       Impact factor: 91.245

2.  The North American mitochondrial disease registry.

Authors:  Xiomara Q Rosales; John L P Thompson; Richard Haas; Johan L K Van Hove; Amel Karaa; Danuta Krotoski; Kristin Engelstad; Richard Buchsbaum; Salvatore DiMauro; Michio Hirano
Journal:  J Transl Genet Genom       Date:  2020-04-28

Review 3.  The multi-domain responder index: a novel analysis tool to capture a broader assessment of clinical benefit in heterogeneous complex rare diseases.

Authors:  P K Tandon; Emil D Kakkis
Journal:  Orphanet J Rare Dis       Date:  2021-04-19       Impact factor: 4.123

4.  Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Authors:  Stéphanie Nguengang Wakap; Deborah M Lambert; Annie Olry; Charlotte Rodwell; Charlotte Gueydan; Valérie Lanneau; Daniel Murphy; Yann Le Cam; Ana Rath
Journal:  Eur J Hum Genet       Date:  2019-09-16       Impact factor: 4.246

5.  A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism.

Authors:  W Reid Thompson; Brittany Hornby; Ryan Manuel; Elena Bradley; Janice Laux; Jim Carr; Hilary J Vernon
Journal:  Genet Med       Date:  2020-10-20       Impact factor: 8.822
  5 in total

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