Clinical Outcome in Patients With Syringomyelia（COPSM）

Phenotypes, Biomarkers and Pathophysiology in Syringomyelia

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.

Study Overview

• Status: Recruiting
• Conditions: Syringomyelia/Hydromyelia
• Intervention / Treatment: Diagnostic test: high throughput sequencing and electromyography

Detailed Description

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.

• Study Type: Observational
• Enrollment (Anticipated): 200

Contacts and Locations

• Study Contact: Name: Fengzeng Jian, M.D.; Phone Number: +8613552067268; Email: jianfengzeng@xwh.ccmu.edu.cn
• Study Contact Backup: Name: chenghua yuan; Phone Number: +8617777784396; Email: yuanchenghua2@163.com

Study Locations

• China
  • Beijing
    • Beijing, Beijing, China, 100032
      • Recruiting
      • Xuanwu Hospital
      • Contact: fengzeng jian

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 80 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

patients who was diagnosed as syringomyelia including: Chiari malformation、Basilar Impression、subarachnoid obstruction

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
syringomyelia group	Diagnostic test: high throughput sequencing and electromyography; Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Other neurodegenerative diseases; such as hydrocephalus	Diagnostic test: high throughput sequencing and electromyography; Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics
Normal group	Diagnostic test: high throughput sequencing and electromyography; Whole Genome Sequencing, Whole Exome Sequencing, Transcriptomics, Proteomics, Metabolomics

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Xuanwu Hospital, Beijing
• Investigators: Study Director: Fengzeng Jian, M.D., Xuanwu Hospital, Beijing

Publications and helpful links

General Publications

• CreveCoeur TS, Yahanda AT, Maher CO, Johnson GW, Ackerman LL, Adelson PD, Ahmed R, Albert GW, Aldana PR, Alden TD, Anderson RCE, Baird L, Bauer DF, Bierbrauer KS, Brockmeyer DL, Chern JJ, Couture DE, Daniels DJ, Dauser RC, Durham SR, Ellenbogen RG, Eskandari R, Fuchs HE, George TM, Grant GA, Graupman PC, Greene S, Greenfield JP, Gross NL, Guillaume DJ, Haller G, Hankinson TC, Heuer GG, Iantosca M, Iskandar BJ, Jackson EM, Jea AH, Johnston JM, Keating RF, Kelly MP, Khan N, Krieger MD, Leonard JR, Mangano FT, Mapstone TB, McComb JG, Menezes AH, Muhlbauer M, Oakes WJ, Olavarria G, O'Neill BR, Park TS, Ragheb J, Selden NR, Shah MN, Shannon C, Shimony JS, Smith J, Smyth MD, Stone SSD, Strahle JM, Tamber MS, Torner JC, Tuite GF, Wait SD, Wellons JC, Whitehead WE, Limbrick DD. Occipital-Cervical Fusion and Ventral Decompression in the Surgical Management of Chiari-1 Malformation and Syringomyelia: Analysis of Data From the Park-Reeves Syringomyelia Research Consortium. Neurosurgery. 2021 Jan 13;88(2):332-341. doi: 10.1093/neuros/nyaa460.
• Nakajima M, Rauramaa T, Mäkinen PM, Hiltunen M, Herukka SK, Kokki M, Musialowicz T, Jyrkkänen HK, Danner N, Junkkari A, Koivisto AM, Jääskeläinen JE, Miyajima M, Ogino I, Furuta A, Akiba C, Kawamura K, Kamohara C, Sugano H, Tange Y, Karagiozov K, Leinonen V, Arai H. Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus. Eur J Neurol. 2021 Feb;28(2):389-400. doi: 10.1111/ene.14575. Epub 2020 Nov 1.
• Klekamp J. Surgical treatment of Chiari I malformation--analysis of intraoperative findings, complications, and outcome for 371 foramen magnum decompressions. Neurosurgery. 2012 Aug;71(2):365-80; discussion 380. doi: 10.1227/NEU.0b013e31825c3426.
• Roser F, Ebner FH, Liebsch M, Dietz K, Tatagiba M. A new concept in the electrophysiological evaluation of syringomyelia. J Neurosurg Spine. 2008 Jun;8(6):517-23. doi: 10.3171/SPI/2008/8/6/517.
• Sadler B, Wilborn J, Antunes L, Kuensting T, Hale AT, Gannon SR, McCall K, Cruchaga C, Harms M, Voisin N, Reymond A, Cappuccio G, Brunetti-Pierri N, Tartaglia M, Niceta M, Leoni C, Zampino G, Ashley-Koch A, Urbizu A, Garrett ME, Soldano K, Macaya A, Conrad D, Strahle J, Dobbs MB, Turner TN, Shannon CN, Brockmeyer D, Limbrick DD, Gurnett CA, Haller G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 Mar 4;108(3):530-531. doi: 10.1016/j.ajhg.2021.01.014.
• Guan J, Yuan C, Zhang C, Ma L, Yao Q, Cheng L, Liu Z, Wang K, Duan W, Wang X, Wang Z, Wu H, Chen Z, Jian F. A novel classification and its clinical significance in Chiari I malformation with syringomyelia based on high-resolution MRI. Eur Spine J. 2021 Jun;30(6):1623-1634. doi: 10.1007/s00586-021-06746-y. Epub 2021 Feb 5. Erratum in: Eur Spine J. 2021 Apr 10;:.

Study record dates

Study Major Dates

• Study Start (Actual): April 16, 2021
• Primary Completion (Anticipated): April 30, 2022
• Study Completion (Anticipated): April 30, 2025

Study Registration Dates

• First Submitted: April 17, 2021
• First Submitted That Met QC Criteria: April 19, 2021
• First Posted (Actual): April 23, 2021

Study Record Updates

• Last Update Posted (Actual): June 8, 2021
• Last Update Submitted That Met QC Criteria: June 6, 2021
• Last Verified: June 1, 2021

More Information

Terms related to this study

• Keywords: Syringomyelia, Biomarker，Electrophysiology
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Syringomyelia
• Other Study ID Numbers: XWCOPSM

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No