@article{c52af750232243abb18bdba9c699b30b,
title = "Patient-reported impact of Charcot-Marie-Tooth disease: Protocol for a real-world digital lifestyle study",
abstract = "Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy affecting the peripheral nervous system. This study will explore the real-world impact of CMT. The trial is a digital study of approximately 2000 people in 6 countries with CMT ≥18 years. Participants will use a smartphone application to check eligibility, provide consent and contribute data. The dataset will include a personal profile, covering demographics, lifestyle, diagnosis and treatment and a selection of validated generic and disease-specific instruments. Participants will provide data for up to 2 years. Data analysis will be conducted upon registration of the 1000th participant and at 12-month intervals from launch. This study is designed to help researchers and clinicians understand the real-world impact of CMT and the unmet needs of patients. ClinicalTrials.gov identifier: NCT03782883",
keywords = "burden of illness, Charcot-Marie-Tooth disease, international, observational, patient-reported outcomes",
author = "Thomas, {Florian P.} and Mario Saporta and Shahram Attarian and Teresa Sevilla and Mascar{\'o}, {Rafael Sivera} and Fabrizi, {Gian Maria} and Filippo Genovese and Amy Gray and Simon Bull and Daniel Tanesse and Manuel Rego and Allison Moore and Courtney Hollett and Katia Monteiro and Xavier Paoli and Samuel Llewellyn and Mark Larkin and Youcef Boutalbi",
note = "Funding Information: Development of this manuscript and the study outlined within were funded by Pharnext, Paris, France. The authors declare the following conflicts of interest in relation to this article: F P Thomas is an employee of Hackensack Meridian School of Medicine, Hackensack University Medical Center. M Saporta is an employee of University of Miami Miller School of Medicine. S Attarian is an employee of CHU de Marseille–H{\^o}pital de la Timone. T Sevilla is an employee of University of Valencia, Hospital Universitari i Polit{\`e}cnic La Fe. R S Mascar{\'o} is an employee of Hospital Francesc de Borja. G M Fabrizi is an employee of University of Verona. F Genovese is a volunteer at ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV. A Gray is an employee of Charcot-Marie-Tooth Association. S Bull is an employee of Charcot-Marie-Tooth UK. D Tanesse is a volunteer at CMT France. M Rego is a volunteer for Federaci{\'o}n Espa{\~n}ola de Enfermedades Neuromusculares. A Moore and C Hollett are employees of Hereditary Neuropathy Foundation. X Paoli and Y Boutalbi are employees of Pharnext. K Monteiro was an employee of Pharnext when the article was developed. S Llewellyn and M Larkin are employees of Vitaccess Ltd. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. No writing assistance was utilized in the production of this manuscript. Publisher Copyright: {\textcopyright} 2021 Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = feb,
doi = "10.2217/nmt-2020-0044",
language = "English (US)",
volume = "11",
pages = "21--33",
journal = "Neurodegenerative disease management",
issn = "1758-2024",
publisher = "Future Medicine Ltd.",
number = "1",
}