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Through a prospective cohort study, we aim to dynamically evaluate the long-term benefits and risks associated with surgical interventions for hereditary spastic paraparesis (HSP) accompanied by foot deformities. Our goal is to systematically summarize clinical experiences to guide practice and ultimately optimize patient outcomes.
The core research objectives include elucidating:
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by axonal degeneration of the corticospinal tract. This degeneration often leads to foot deformities such as equinovarus, cavus foot, and Achilles tendon contracture, which result from lower limb spasticity and muscular imbalance. These deformities result in gait abnormalities, uneven plantar pressure distribution, and secondary osteoarticular damage, which significantly impair motor function and quality of life. Surgical correction serves as the primary intervention to address fixed deformities and delay disease progression.This prospective, open-label, single-center study aims to evaluate the long-term functional outcomes of surgical treatment for HSP-related foot deformities, determine the optimal timing for surgical intervention, and establish objective evaluation criteria. Over a 2-year period, 100 patients aged 10-45 years with HSP-confirmed isolated Achilles tendon contracture or equinovarus cavus foot deformity will be enrolled in the study. Eligible patients must exhibit progressive deformity refractory to conservative therapy, accompanied by walking pain, frequent falls, and significant quality-of-life impairment. They must also retain the ability to walk independently or with assistive devices for at least 10 meters. All participants will undergo regular clinical assessments.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HSP patients (ages 10 to 45) with foot deformities unresponsive to conservative therapy | Patients aged 10 to 45 years who have been diagnosed with isolated Achilles tendon contracture or equinovarus cavus deformity due to hereditary spastic paraparesis (HSP) will be recruited for the study. Eligible participants must have undergone standard conservative treatments, including pharmacological therapy or rehabilitation exercises, but have demonstrated a poor response or progressive worsening of gait disturbances and foot deformities, and be capable of walking barefoot for 10 meters, with or without the use of assistive devices. |
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| Measure | Description | Time Frame |
|---|---|---|
| American Orthopaedic Foot and Ankle Society Score(AOFAS scores) | The quantitative assessment of ankle-foot function,directly reflects the long-term improvement in foot functionality following surgical intervention, serving as a critical indicator of therapeutic efficacy. | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| Measure | Description | Time Frame |
|---|---|---|
| Visual Analog Scale (VAS) Score | The Visual Analog Scale (VAS) is a standardized tool for quantifying subjective symptoms (including pain and discomfort), serving as a critical indicator of surgical efficacy in alleviating foot pain in patients with Hereditary Spastic Paraplegia (HSP). | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| Measure | Description | Time Frame |
|---|---|---|
| MoCA score | Montreal Cognitive Assessment (MoCA) score: range: 0-30, higher scores mean a better outcome. | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| MMSE score |
Inclusion Criteria:
Exclusion Criteria:
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Patients meet the clinical and genetic diagnostic criteria of hereditary spastic paraplegia (HSP) between 10 to 45 years old with foot deformities.after undergoing standard conservative management (including pharmacological therapy and rehabilitation exercises) with suboptimal outcomes. Patients agree to participate in clinical trials and able to understand and comply with the research program.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Li Cao, phD | Contact | +86 21 64369263 | caoli2000@yeah.net | |
| Wo tu Tian, phD | Contact | +86 21 64369181 | wotu_tian@163.com |
| Name | Affiliation | Role |
|---|---|---|
| Li Cao, phD | Shanghai Jiao Tong University Affiliated Sixth People's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine | Recruiting | Shanghai | Shanghai Municipality | 213000 | China |
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| ID | Term |
|---|---|
| D015419 | Spastic Paraplegia, Hereditary |
| D005530 | Foot Deformities |
| 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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| Foot Posture Index (FPI) | The Foot Posture Index (FPI) is a quantitative tool for assessing foot posture, designed to objectively evaluate the severity of foot alignment abnormalities. | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| 6-Minute Walk Test (6MWT) | The 6-MWT measures the distance a person can walk in six minutes. A shorter distance indicates lower exercise capacity | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| Spastic Paraplegia Rating Scale (SPRS) | The change in the Spastic Paraplegia Rating Scale (SPRS) score : range: 0-52, higher scores mean a worse outcome | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| Gross Motor Function Measure-88 (GMFM-88) for Minors | Gross Motor Function Measure-88 (GMFM-88) score: range: 0-264, higher scores mean a better outcome | From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
Mini-Mental State Examination (MMSE) : range: 0-30, higher scores mean a better outcome.
| From the end of treatment to observations at 1 months, 3months, 6months, 12months, 18months, and 24months respectively. |
| 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 |
| D009140 | Musculoskeletal Diseases |