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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| calcium folinate treatment group | Experimental | Drug: calcium folinate Phase I: calcium folinate infusion intravenously for 5 consecutive days at a dose of 1mg/kg/day in two divided doses per day. Then it was changed to oral administration at a dose of 2mg/kg/day during hospitalization. Phase II: long-term oral medication at a dose of 2mg/ kg/day in two daily doses. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| calcium folinate | Drug | Intravenous infusion and/or oral therapy |
|
| Measure | Description | Time Frame |
|---|---|---|
| GMFM-88 | The change in the Gross Motor Function Measure-88 (GMFM-88) score from baseline (range: 0-264, higher scores mean a better outcome). | At the end of the 5-year follow-up period |
| Measure | Description | Time Frame |
|---|---|---|
| SPRS score | The change in the Spastic Paraplegia Rating Scale (SPRS) score from baseline (range: 0-52, higher scores mean a worse outcome). | At the end of the 5-year follow-up period |
| MMSE score |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Shanghai 6th People's Hospita | Recruiting | Shanghai | Shanghai Municipality | China |
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| ID | Term |
|---|---|
| D015419 | Spastic Paraplegia, Hereditary |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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| ID | Term |
|---|---|
| D002955 | Leucovorin |
| ID | Term |
|---|---|
| D005575 | Formyltetrahydrofolates |
| D013763 | Tetrahydrofolates |
| D005492 | Folic Acid |
| D011622 | Pterins |
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The change in the Mini-Mental State Examination (MMSE) score from baseline (range: 0-30, higher scores mean a better outcome).
| At the end of the 5-year follow-up period |
| Laboratory indicators | The change in the Laboratory indicators (blood biochemistry, lipid metabolism, folate, etc) and the number of participants with abnormal laboratory indicators. | At the end of the 5-year follow-up period |
| Cranial CT/MRI | The change in the cranial CT/MRI from baseline. | At the end of the 5-year follow-up period |
| Gait examination | The change in the gait examination from baseline. | At the end of the 5-year follow-up period |
| MoCA score | The change in the Montreal Cognitive Assessment (MoCA) score from baseline (range: 0-30, higher scores mean a better outcome). | At the end of the 5-year follow-up period |
| High density electroencephalogram | The change in the high density electroencephalogram from baseline. | At the end of the 5-year follow-up period |
| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D011621 |
| Pteridines |
| D006574 | Heterocyclic Compounds, 2-Ring |
| D000072471 | Heterocyclic Compounds, Fused-Ring |
| D006571 | Heterocyclic Compounds |
| D003067 | Coenzymes |
| D045762 | Enzymes and Coenzymes |