@article{b7188bff3a5241149d92aa2987025fd6,
title = "Toward responsible clinical n-of-1 strategies for rare diseases",
abstract = "N-of-1 strategies can provide high-quality evidence of treatment efficacy at the individual level and optimize evidence-based selection of off-label treatments for patients with rare diseases. Given their design characteristics, n-of-1 strategies are considered to lay at the intersection between medical research and clinical care. Therefore, whether n-of-1 strategies should be governed by research or care regulations remains a debated issue. Here, we delineate differences between medical research and optimized clinical care, and distinguish the regulations which apply to either. We also set standards for responsible optimized clinical n-of-1 strategies with (off-label) treatments for rare diseases. Implementing clinical n-of-1 strategies as defined here could aid in optimized treatment selection for such diseases.",
keywords = "clinical care, learning healthcare systems, methodology, personalized medicine, rare diseases, single patient trial",
author = "Defelippe, \{Victoria M\} and \{J M W van Thiel\}, Ghislaine and Otte, \{Willem M\} and Schutgens, \{Roger E G\} and Bas Stunnenberg and Cross, \{Helen J\} and Finbar O'Callaghan and \{De Giorgis\}, Valentina and Jansen, \{Floor E\} and Emilio Perucca and Brilstra, \{Eva H\} and Braun, \{Kees P J\}",
note = "Funding Information: Research Centre at Great Ormond Street Hospital. She holds an endowed chair at UCL Great Ormond Street Institute of Child Health; she holds grants from NIHR, EPSRC, GOSH Charity, ERUK, and the Waterloo Foundation. Funding Information: H.J.C. has acted as an investigator for studies with GW Pharma, Zogenix, Vitaflo, and Marinius. She has been a speaker and on advisory boards for GW Pharma, Zogenix, and Nutricia; all remuneration has been paid to her department. Her research is supported by the NIHR Biomedical. Funding Information: The authors would like to thank members of the ERN EpiCARE and the European Patient Advocacy Groups who have expressed their insights on the use of n-of-1 strategies to improve treatment selection. The figure and box were made using BioRender. This work was supported by Health-Holland [under grant no. LSHM21053-SGF] and MING fonds. Publisher Copyright: {\textcopyright} 2023 The Authors",
year = "2023",
month = oct,
doi = "10.1016/j.drudis.2023.103688",
language = "English",
volume = "28",
journal = "Drug Discovery Today",
issn = "1359-6446",
publisher = "Elsevier Limited",
number = "10",
}