Clinical Outcome in Patients With Syringomyelia（COPSM）

Study Overview
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Brief Summary
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The aim of this study is to determine the clinical spectrum and natural progression of Syringomyelia (SM) and related disorders in a prospective single center study, identify digital, imaging and molecular biomarkers that can assist in diagnosis and therapy development and study the etiology and molecular mechanisms of these diseases.

Detailed Description
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Syringomyelia is a chronic central spinal cord injury, which is characterized by dilation of the central canal of the spinal cord. At present, the treatment of syringomyelia is mainly through surgical decompression to restore the disturbance of cerebrospinal fluid circulation. Due to the heterogeneity of the etiology of syringomyelia, almost all published studies on the clinical outcome and prognostic factors of syringomyelia are relatively limited, and most of them are retrospective. It is not clear which is the most reliable predictor of clinical outcome. Therefore, the researchers conducted this prospective cohort study to identify the occurrence, development and outcome of syringomyelia and determine the main prognostic factors through clinical scales, biomarkers and electrophysiology. At study visits a standardized clinical examination will be performed including application of clinical rating scales. At all study visits, patients will be asked to donate biosamples; biomaterial collection is optional and participants can elect to participate in sampling of blood, urine, CSF, and/or a muscle biopsy. Optionally, additional examinations may be performed including imaging, neurophysiological examination, analysis of patient or observer reported outcomes and analysis to characterize molecular biomarkers.

Official Title
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Phenotypes, Biomarkers and Pathophysiology in Syringomyelia

Conditions
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Syringomyelia/Hydromyelia

Intervention / Treatment
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* Diagnostic Test: high throughput sequencing and electromyography


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patients who was diagnosed as syringomyelia including: Chiari malformation， Basilar Impression， subarachnoid obstruction， patient not received surgical or interventional treatment before， patient willing and able to participate in the registry， Hydrocephalus or other neurodegenerative disease and normal subjects. Exclusion Criteria: patient received surgical treatment or interventional treatment before patient is pregnant patient unable to complete follow-up patient with other spinal lesions other nervous system diseases

Ages Eligible for Study
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Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| syringomyelia group<br> | Diagnostic Test: high throughput sequencing and electromyography<br>* Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics<br>|
| Other neurodegenerative diseases<br>such as hydrocephalus | Diagnostic Test: high throughput sequencing and electromyography<br>* Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics<br>|
| Normal group<br> | Diagnostic Test: high throughput sequencing and electromyography<br>* Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change of the spinal cord function | American Spinal Injury Association(ASIA) Score for evaluating the spinal cord function | 1 day before operation and 3 days, 3 months, 12 months postoperation | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| molecular profiling results | Change From Baseline in molecular at postoperation | 1 day before operation and 3 days, 3 months postoperation | 
| Electrophysiology results | included：electromyography and evoked potential; Change From Baseline in Electrophysiology at postoperation | 1 day before operation and 3 days, 3 months postoperation | 
| the rates of syrinx reduction | defined as a reduction of the syrinx diameter or length in MRI | 3 days, 3 months postoperation | 
| Chicago Chiari outcome scale (CCOS) | Pain symptoms,Nonpain symptoms,Functionality,Complications, 4-16, higher scores mean a better outcome. | 3 days, 3 months, 12 months postoperation | 
| Visual Analog Scale (VAS) | degree of the pain, 1-10, higher scores mean a worse outcome | 1 day before operation and 3 days, 3 months, 12 months postoperation | 
| Klekamp and Sammi syringomyelia scale | for evaluating the spinal cord function, higher scores mean a better outcome | 1 day before operation and 3 days, 3 months, 12 months postoperation | 
| modified Japanese Orthopaedic Association Scores (mJOA) | Motor function， sensory， bladder function；for evaluating the spinal cord function；0-17， higher scores mean a better outcome | 1 day before operation and 3 days, 3 months, 12 months postoperation | 
| Incidence of perioperative complications |  | 1 week | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Syringomyelia, Biomarker，Electrophysiology