The China facioscapulohumeral muscular dystrophy type 1 (FSHD1) registry: rationale for and description of a nationwide, observational cohort study

Abstract Background: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a rare, hereditary, and progressive muscular dystrophy characterized by weakness and wasting of the facial (facio-) and shoulder-upper arm (scapulo-humeral-) muscles. The clinical severity varies from nonpenetrant/asymptomatic to disability with independent ambulation loss or even wheelchair dependence. Expansion of our knowledge of the genetic model D4Z4 macrosatellite repeat contraction leading to inappropriate expression of DUX4 has led to advances in developing targeted therapeutic strategies. Thus, clinical trial readiness is now required, particularly patient registry. However, there is no FSHD registry in China, let alone any database of the epidemiology, natural history, and clinical management of FSHD. This nationwide, longitudinal, non-interventional, rare-disease patient registry (The China FSHD1 Registry, CF1R ) was established to address the paucity of data in FSHD1 and to help inform future clinical practice and optimization clinical management. Results: This explorative study aims to recruit all patients with a genetically confirmed diagnosis of FSHD1 in China. Practice data, including demographic factors, disease progression history, family history, and clinical and genetic features are collected; the protocol does not mandate any interventions. Patients will be continuously assessed for 10 years at 5-year intervals. Several data analyses and peer-reviewed publications are expected to be generated throughout this period. Conclusions: The data collected within this rare-disease patient registry (CF1R) will be utilized to synthesize real-world data on epidemiological information, disease progression, and clinical and (epi)genetic information, which are vital for adequate symptom management and clinical trial-readiness of FSHD1 in China. Ethics and dissemination The study was granted ethics committee approval by the First Affiliated Hospital of Fujian Medical University (MRCTA, ECFAH of FMU [2020]026) in 2020. Findings will be disseminated via presentations and peer-reviewed publications. Dissemination will target different audiences, including national stakeholders, researchers from different disciplines and the general public. Trial registration number NCT04369209