Hereditary Spastic Paraplegia
Conditions
Brief summary
SPG56 is one of the complicated and early-onset HSP subtypes caused by genetic mutations in CYP2U1. So far, there is no standardized and specific clinical therapy for SPG56. The goal of this clinical trial is to explore the efficacy and safety of calcium folinate in the treatment of SPG56 patients. This study is prospective, open-label and single arm and this trial will last for 6 years. A total of 10 patients will participate and they will receive calcium folinate treatment and professional clinical evaluation regularly.
Interventions
DRUGcalcium folinate
Intravenous infusion and/or oral therapy
Sponsors
Shanghai 6th People's Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Patients meet the clinical diagnostic standard of hereditary spastic paraplegia (HSP); 2. Spastic paraplegia type 56 (SPG56) was diagnosed by CYP2U1 pathogenic mutation; 3. Patients are willing to participate in clinical trials and able to understand and comply with the research program.
Exclusion criteria
1. Patients are allergic to the drugs involved in the study; 2. Other neurological diseases likely affecting the evaluation of study treatment; 3. Other medical conditions such as: heart disease, tumor, blood disease, liver disease, kidney disease, etc. in the past 1 year; 4. Pregnancy or lactating women or subjects who are unable to use appropriate contraception during the trial; 5. Participating in another study drug trial and used the investigational drug in the past 30 days; 6. Subjects have poor compliance or other factors that are not suitable for participating in the clinical trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| GMFM-88 | At the end of the 5-year follow-up period | The change in the Gross Motor Function Measure-88 (GMFM-88) score from baseline (range: 0-264, higher scores mean a better outcome). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| MMSE score | At the end of the 5-year follow-up period | The change in the Mini-Mental State Examination (MMSE) score from baseline (range: 0-30, higher scores mean a better outcome). |
| Laboratory indicators | At the end of the 5-year follow-up period | The change in the Laboratory indicators (blood biochemistry, lipid metabolism, folate, etc) and the number of participants with abnormal laboratory indicators. |
| Cranial CT/MRI | At the end of the 5-year follow-up period | The change in the cranial CT/MRI from baseline. |
| SPRS score | At the end of the 5-year follow-up period | The change in the Spastic Paraplegia Rating Scale (SPRS) score from baseline (range: 0-52, higher scores mean a worse outcome). |
| MoCA score | At the end of the 5-year follow-up period | The change in the Montreal Cognitive Assessment (MoCA) score from baseline (range: 0-30, higher scores mean a better outcome). |
| High density electroencephalogram | At the end of the 5-year follow-up period | The change in the high density electroencephalogram from baseline. |
| Gait examination | At the end of the 5-year follow-up period | The change in the gait examination from baseline. |
Countries
China
Outcome results
None listed