Syringomyelia

Summary

Syringomyelia (MONDO:0017987) is a disease and 14 clinical trials. Top therapeutic interventions include betaine and glycinebetaine. A subtype of spinal cord disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe) [Orphanet-validated]
• Clinical trials: 14

Clinical features

Epidemiology

Prevalence records

5 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000	8.4	Europe	Validated
Point prevalence	1-9 / 100 000	8.4	United Kingdom	Validated
Point prevalence	1-9 / 100 000	9	Spain	Validated
Point prevalence	1-9 / 100 000	1.94	Japan	Validated
Point prevalence	1-9 / 100 000	8.2	New Zealand	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	syringomyelia
Mondo ID	MONDO:0017987
MeSH	D013595
Orphanet	3280
DOID	DOID:327
ICD-11	1161887622
NCIT	C85179
SNOMED CT	111496009
UMLS	C0039144
MedGen	21449
GARD	0007725
MedDRA	10042928
NORD	1755
Is cancer (heuristic)	no

Data availability: 5 cell lines.

Disease family

This is a subtype of spinal cord disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › spinal cord disorder › syringomyelia

Related subtypes (9): vascular myelopathy, myelitis, anterior horn disorder, tethered spinal cord syndrome, spina bifida, radiation myelitis, spinal cord neoplasm, spinal cord injury, segmental spinal dysgenesis

Subtypes (2): primary syringomyelia, secondary syringomyelia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Betaine, Thalidomide.

Clinical trials & evidence

Clinical trials

Clinical trials: 14.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	11
PHASE2	2
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06268093	PHASE2	RECRUITING	The Therapeutic Effect of Thalidomide in Syringomyelia
NCT06308367	PHASE2	RECRUITING	The Therapeutic Effect of Betaine in Syringomyelia
NCT07295067	PHASE1	RECRUITING	Extracellular Vesicles for the Treatment of Syringomyelia
NCT06011226	Not specified	NOT_YET_RECRUITING	Development of a Patient-reported Outcome Measure for Chiari Malformation and Syringomyelia
NCT06375759	Not specified	RECRUITING	Subarachnoid-Subarachnoid (S-S) Bypass Versus Adhesion Lysis in Spinal Arachnoiditis and Syringomyelia
NCT00001327	Not specified	COMPLETED	Establishing the Physiology of Syringomyelia
NCT00004738	Not specified	COMPLETED	Genetic Analysis of the Chiari I Malformation
NCT00011245	Not specified	COMPLETED	Study and Surgical Treatment of Syringomyelia
NCT01150708	Not specified	COMPLETED	A Prospective Natural History Study of Patients With Syringomyelia
NCT02341950	Not specified	COMPLETED	Clinical Trial of a Serious Game for Individuals With SCI/D
NCT02669836	Not specified	COMPLETED	Posterior Fossa Decompression With or Without Duraplasty for Chiari Type I Malformation With Syringomyelia
NCT04220541	Not specified	COMPLETED	Investigation of the Effects of Exercise on Patients With Chiari Malformation
NCT04856839	Not specified	UNKNOWN	Clinical Outcome in Patients With Syringomyelia（COPSM）
NCT05646810	Not specified	UNKNOWN	Impact of Peripheral Afferent Input on Central Neuropathic Pain

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BETAINE	4	1
CHEMBL426123	0	1
GLYCINEBETAINE	0	1