Clinical trials

The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

Cerebellar ataxia is a form of ataxia originating in the cerebellum. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. To understand the clinical and genetic characteristics of cerebellar ataxia, we establish a registered cohort to follow up Chinese patients with cerebellar ataxia.

The aim of the study is to analyze the natural history data data from Charcot-Marie-Tooth disease and related disorders in China, to assess the clinical, genetic, epigenetic features of patients with Charcot-Marie-Tooth disease, and to optimize clinical management.

Dystrophinopathy is a term of X-linked recessive genetic disease, including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and the X-linked dilated cardiomyopathy. The aim of this study is to determine the clinical spectrum and natural progression of dystrophinopathy in a prospective multicenter natural history study, to assess the clinical, genetic of patients with dystrophinopathy to optimize clinical management.