ORPHA:99858
Idiopathic syringomyelia
Publications
250
71.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,064
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
syringomyelia is a rare, non-syndromic central nervous system characterized by a longitudinally oriented fluid-filled cavity inside the spinal cord parenchyma or the central canal, without any readily identifiable cause. It is usually associated with pain, sensory and/or musculoskeletal disturbances, but it can also be an incidental and asymptomatic finding.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0020510
- UMLS:C4511700
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
250 matched papers (134 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 10 for broader category syringomyelia
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
250
250 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
250 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
134 in the last 10 years · high confidence · 71.5th percentile (publications denominator)
Phrase hits: 250 · MeSH hits: 0
Who's working on it?
1,064
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Haughton V7 papers · 2019
From the Departments of Radiology (A.T., A.M.d.R., V.H.) vmhaughton@wisc.edu.
Papers in Europe PMC - 02Royo-Salvador MB7 papers · 2024
Servicio de Neurocirugia, Clinica Tres Torres, Barcelona. nroyo@idgrup.ibernet.com
Papers in Europe PMC - 03Goel A6 papers · 2023
Department of Neurosurgery, K. E. M. Hospital and Seth G. S. Medical College, Mumbai, Maharashtra, India.
Papers in Europe PMC - 04Li Z5 papers · 2025
The Second school of Clinical Medicine, Second Clinical Medical College of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 05Poca MA4 papers · 2024
Neurosurgery and Pediatric Neurosurgery, Vall d'Hebron Hospital Universitari, Neurotrauma and Neurosurgery Research Unit, and Universitat Autònoma de Barcelona, Barcelona, Spain.
Papers in Europe PMC - 06Qiu Y4 papers · 2025
Department of Neurology, Guangdong Neuroscience Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.
Papers in Europe PMC - 07Shah A4 papers · 2023
Department of Neurosurgery, K. E. M. Hospital and Seth G. S. Medical College, Mumbai, Maharashtra, India.
Papers in Europe PMC - 08wang l4 papers · 2023
Department of Laboratory Medicine, University of California, San Francisco, San Francisco.
Papers in Europe PMC - 09Wang Y4 papers · 2025
Department of Orthopaedics, The 2nd Affiliated Hospital of Kunming Medical University Kunming, Yunnan Province, P. R. China.
Papers in Europe PMC - 10Bateman GA3 papers · 2020
Department of Medical Imaging, John Hunter Hospital, Newcastle Region Mail Center, Locked Bag 1, Newcastle, NSW, 2310, Australia. grant.bateman@health.nsw.gov.au.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 10 trials are registered for syringomyelia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
10 interventional trials matched syringomyelia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: syringomyelia
10
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06268093·RECRUITING·The Therapeutic Effect of Thalidomide in Syringomyelia
Conditions: Syringomyelia · Thalidomide·Matched via name phrase
- NCT06308367·RECRUITING·The Therapeutic Effect of Betaine in Syringomyelia
Conditions: Syringomyelia·Matched via name phrase
- NCT07720206·NOT YET RECRUITING·Abnormality of the Central Canal of the Spinal Cord in Syringomyelia in a Patient With a Basal Skull Malformation
Conditions: Chiari Malformation Type I · Syringomyelia·Matched via name phrase
- NCT06375759·RECRUITING·Subarachnoid-Subarachnoid (S-S) Bypass Versus Adhesion Lysis in Spinal Arachnoiditis and Syringomyelia
Conditions: Syringomyelia·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT01440218·ENROLLING BY INVITATION·Idiopathic Diseases of Man
Conditions: Rare Disease · Idiopathic Disease·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Idiopathic syringomyelia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic syringomyelia" OR "primary syringomyelia" OR "idiopathic disease"
Recall-expansion terms: primary syringomyelia, idiopathic disease
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"syringomyelia"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T06:24:13.753Z