Establishment of Hong Kong Neuromuscular Disorder Patient Registry

ABSTRACT

Introduction: Neuromuscular disorders (NMDs) are a group of diseases affecting the peripheral nervous system (1). Many NMDs cause disability or even premature death (2). We aim to design and establish a robust NMD patient registry in Hong Kong. Methods: By modelling international NMD patient registries, we designed patient-professional reported questionnaires to collect the demographic, clinical c haracteristics, genetic details, family history, investigation findings and specific treatment of NMD patients. Patients were recruited through Hong Kong West Cluster (DKCH, QMH) and Kowloon Central Cluster (HKCH). We also developed self-registration online platform. p<0.05 was considered statistically significant. Findings: Since June 2019, 125 NMD patients have been enrolled in the registry with 12 participants registered online. The registry recruited 13 types of NMDs, including spinal muscular atrophy (SMA) (n=31), Duchenne muscular dystrophy (DMD) (n=19) and congenital myopathy (n=18). The age range was 7 months to 63 years old. 65.6% of those enrolled were children (<18 years old). 63.2% were male. 64.8% of the patients had genetic diagnosis. The registry has contributed to two studies. The first one is a prospective study of clinical efficiency of Nusinersen in SMA patients (n=22). 14/16 SMA patients showed improvement in at least one of motor performance (CHOP intend/RULM/HINE/HFMSE) and health-related quality of life after 1st year of treatment. The second study is the reactogenicity and immunogenicity study of the COVID-19 vaccine in DMD patients (n=4). Data will be available in October. Conclusion: Hong Kong Patient registry has contributed to ongoing and new research study to optimise medical care.