Clinical trials

The aim of this study is to determine the clinical spectrum and natural progression of Hereditary Spastic Paraplegias(HSP) and related disorders in a prospective multicenter natural history study, to assess the clinical, genetic and epigenetic features of patients with Spastic Paraplegias to optimize clinicalmanagement..

The aim of this study is to determine the clinical spectrum and natural progression of Wilson's Disease in a prospective multicenter natural history study, to assess the clinical, genetic, epigenetic features and biomarkers of patients with Wilson's Disease to optimize clinical management.

Brain calcification is a common neuroimaging feature in patients with metabolic, neurological, or developmental disorders, infectious diseases, traumatic or toxic history, as well as in otherwise normal older people. To understand the clinical and genetic characteristics of brain calcification, we establish a cohort of brain calcification to follow up patients with brain calcification.

Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.