Clinical Trial of Calcium Folinate Treatment for Spastic Paraplegia Type 56 Caused by CYP2U1 Mutation

What this Trial Is About

Hereditary Spastic Paraplegia type 56 SPG56 is a complex early-onset form of HSP caused by genetic mutations in the CYP2U1 gene. Currently, there is no standardized treatment for SPG56. This research aims to evaluate the safety and potential benefits of calcium folinate in SPG56 patients through a prospective, open-label, single-arm clinical trial sponsored by Shanghai 6th Peoples Hospital. Participants will receive calcium folinate treatment in two phases. Initially, calcium folinate is given intravenously for 5 consecutive days at 1 mgkgday in two divided doses. Following this, during hospitalization, treatment switches to oral calcium folinate at 2 mgkgday. Afterward, long-term oral calcium folinate at the same dose is continued. The trial will last for six years with a total of 10 participants. During the study, patients will undergo regular professional clinical evaluations. Researchers will measure outcomes such as the Gross Motor Function Measure GMFM-88 after five years of follow-up. Additional assessments include the Spastic Paraplegia Rating Scale SPRS, Mini-Mental State Examination MMSE, laboratory tests, brain imaging CTMRI, gait analysis, Montreal Cognitive Assessment MoCA, and high-density electroencephalogram at the five-year mark. Safety and compliance will also be monitored throughout the study period.

Calcium Folinate Treatment of Spastic Paraplegia 56