A Prospective Natural History Study of Patients With Syringomyelia

NCT01150708 | Active Not Recruiting

• 2 other identifiers: 10014310-N-0143
• Study Type: observational
• Target: 180
• Locations: 1 country
• Sites: 1

Brief Summary

Background:

• Syringomyelia is a disorder in which a cyst (syrinx) forms within the spinal cord and causes spinal cord injury, with symptoms worsening over many years, including paralysis, loss of sensation, and chronic pain. Researchers are interested in obtaining more knowledge about how a syrinx forms in order to develop safer and more effective treatments for syringomyelia and related conditions.
• The goal of surgical treatment of syringomyelia is to eliminate the syrinx and prevent further spinal cord injury. In most patients, surgery results in the syrinx becoming smaller, but the effect of surgery on a patient s muscle strength, pain level, and overall function has not been studied over time. In addition, some individuals with syringomyelia or related conditions are not considered to be good candidates for surgery, and more information is needed about potential alternative treatments for these individuals.
• By recording more than 5 years of symptoms, muscle strength, general level of functioning, and magnetic resonance imaging (MRI) scan findings from individuals who receive standard treatment for syringomyelia, researchers can obtain more information about factors that influence its development, progression, and relief of symptoms. Objectives: \- To conduct a 5-year natural history study of individuals with syringomyelia and related conditions. Eligibility: \- Individuals at least 18 years of age who have syringomyelia or related conditions (including pre-syringomyelia or Chiari I malformation without syringomyelia). Design:
• This study requires 7 outpatient visits to the National Institutes of Health Clinical Center: an initial visit; a visit 3 months later; and visits 1, 2, 3, 4, and 5 years after the initial visit. An additional 10 days of inpatient treatment and testing will be required if surgery is needed during the study.
• The following tests will be performed during this study:
• Medical history and physical examination, which may also determine eligibility for surgery
• Detailed neurological history and examination
• Blood and urine samples
• MRI scans: Participants will have 2 scans at the initial evaluation, 2 scans at the 3-month visit, and 1 scan every year for the following 5 years.
• Additional neurological and imaging tests if needed, including a lumbar puncture to collect spinal fluid, a myelogram (imaging study) of the spinal fluid, and a computed tomography scan of the skull and spine.
• Participants who are surgical candidates will have additional tests along with the surgery, including diagnostic studies (electrocardiogram and chest X-ray) before surgery and an MRI scan 1 week after surgery.

Conditions

Syringomyelia; Arnold Chiari Deformity

Keywords

Syringomyelia; Magnetic Resonance Imaging; Natural History Study; Neurological Examination; Natural History

Outcome Measures

Primary Outcomes (1)

• Change in ASIA Score

  Patients with syringomyelia and a neurological deficit will be considered to be surgical candidates. In this group, neurologic and radiographic outcomes in patients that undergo surgery will be compared to neurologic and radiographic outcomes in patients that refuse surgical treatment. The primary outcome variable will be the change in motor strength in muscles of the upper and lower extremities as assessed by the American Spinal Injury (ASIA) Grading Scale. The change in ASIA score in patients between before surgery and one year after surgery will be compared to the one-year change in ASIA score in patients not receiving surgery (see Section 11, Statistical Analysis).

  1 year

Secondary Outcomes (1)

• Change in maximal Syrinx Anteroposterior Diameter

  1 year

Study Arms (3)

Chiari 1 with syringomyelia

Chiari I malformation with syringomyelia.

Chiari 1 without syringomyelia

A Chiari I Malformation without syringomyelia is defined as descent of the cerebellar tonsils \> 5 mm below the foramen magnum 79 without associated syringomyelia.

Syringomyelia without chiari

A syrinx or syringomyelia is defined as an intramedullary cyst that extends / length \> 1spinal segment.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

The study population is 180 patients with syringomyelia or with a condition that predisposes to the formation of syringomyelia such as presyringomyelia or Chiari I malformation without syringomyelia. A syrinx or syringomyelia is defined as an intramedullary cyst that extends / length \> 1 spinal segment. Presyringomyelia will be defined as T2 hyperintensity \> 4mm diameter extending over one spinal segment and associated with either Chiari I Malformation or a spinal lesion.A Chiari I Malformation without syringomyelia is defined as descent of the cerebellar tonsils \> 5 mm below the foramen magnum without associated syringomyelia.

You may qualify if:

• To be eligible to participate in this research study, the subject must:
• Be 18 years of age or older.
• Have syringomyelia, presyringomyelia, or Chiari I malformation without syringomyelia.
• Be able to give informed consent.
• new or increased impairment in sensation, strength, or walking within the previous 2 years; and
• an MRI-scan showing a syrinx or the presence of abnormal fluid and swelling in the spinal cord; the abnormality in the spinal cord must be located in a part of the spinal cord that could produce the patient s symptoms; and
• evidence of abnormalities at the base of the skull or within the spine that are often associated with syringomyelia, or abnormalities in CSF circulation that increase the pressure of the cerebrospinal fluid; and
• medical health that is sufficient to allow the subject to withstand a major surgical procedure and to remain active during the recovery period after surgery.

You may not qualify if:

• The subject will not be eligible to participate in this research study if the subject:
• Is pregnant (because multiple MRI scans might injure a fetus).
• Cannot have an MRI scan as determined by the radiologist (see the risks below).
• Has a problem with bleeding that cannot be corrected.

Sponsors & Collaborators

• National Institute of Neurological Disorders and Stroke (NINDS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Agarwalla PK, Dunn IF, Scott RM, Smith ER. Tethered cord syndrome. Neurosurg Clin N Am. 2007 Jul;18(3):531-47. doi: 10.1016/j.nec.2007.04.001.

  PMID: 17678753 BACKGROUND

• Anderson NE, Willoughby EW, Wrightson P. The natural history of syringomyelia. Clin Exp Neurol. 1986;22:71-80.

  PMID: 3581513 BACKGROUND

• Andrews BT, Weinstein PR, Rosenblum ML, Barbaro NM. Intradural arachnoid cysts of the spinal canal associated with intramedullary cysts. J Neurosurg. 1988 Apr;68(4):544-9. doi: 10.3171/jns.1988.68.4.0544.

  PMID: 3280748 BACKGROUND

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Syringomyelia; Arnold-Chiari Malformation

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Neural Tube Defects; Nervous System Malformations; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• John D Heiss, M.D.

  National Institute of Neurological Disorders and Stroke (NINDS)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 24, 2010
• First Posted: June 25, 2010
• Study Start: August 3, 2010
• Last Updated: May 1, 2026

Record last verified: 2025-06-13

Locations

US (1)