Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population
Liangliang Qiu, Long Chen, Fuze Zheng, Min‐Ting Lin, Yi Lin, Ying Fu, Ning Wang, Zhiqiang Wang
Abstract
We have read with great interest the article on the predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy, published recently in Brain by Katz and colleagues.1 They reported a relatively high disability rate within their patient cohort (23.7%, 137/578). In their study, inclusion criteria on patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) were based on positive commercial testing (medical chart review) or positive research testing. The authors defined the functional outcome of wheelchair use based only on patient-reported symptoms without professional and objective assessments. This approach may overestimate numbers of individuals utilizing wheelchairs. Future clinical trials on newly developed FSHD interventions require accurate patient data collection on FSHD disability in the present. Fujian Neuromedical Centre (FNMC) is a diagnosis centre for genetic FSHD in China, and the only one employing pulsed-field gel electrophoresis (PFGE)-based Southern blotting for all FSHD1 genetic tests. During 2001–2020, all genetically confirmed FSHD1 cases from China were registered in FNMC.2 As one of the longest longitudinal genetic studies for FSHD1, our data analysed an average of 10.5 years of follow-up. The study protocol is published in Clinicaltrials.gov (https://www.ClinicalTrials.gov; NCT 04369209). Enrolment in the FNMC was voluntary, and the study protocol was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University [2016(17)], which had more significance than de-identified data in cohort studies.