Myelomeningocele

disease
On this page

Also known as meningomyelocele

Summary

Myelomeningocele (MONDO:0019773) is a disease (an umbrella term covering 8 Mondo subtypes) and 42 clinical trials. Top therapeutic interventions include atosiban, botulinum toxin type a, and terbutaline. A subtype of spina bifida cystica — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Umbrella term: 8 Mondo subtypes
  • Clinical trials: 42

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namemyelomeningocele
Mondo IDMONDO:0019773
MeSHD008591
Orphanet93969
DOIDDOID:0060326
ICD-111200528084
SNOMED CT414667000
UMLSC0025312
MedGen7538
GARD0003475
Is cancer (heuristic)no

Also known as: meningomyelocele

Data availability: 1 HPO phenotype · 4 cell lines.

Disease family

This is a subtype of spina bifida cystica. 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 disordercongenital nervous system disorderspina bifidaisolated spina bifidaspina bifida cysticamyelomeningocele

Related subtypes (4): Chiari malformation type II, posterior meningocele, myelocystocele, saccular spinal dysraphism with a stalk to the dome

Subtypes (8): total spina bifida cystica, thoracolumbosacral spina bifida cystica, lumbosacral spina bifida cystica, cervical spina bifida cystica, cervicothoracic spina bifida cystica, upper thoracic spina bifida cystica, true myelomeningocele, hemi-myelomeningocele

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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 42.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified40
PHASE41
PHASE1/PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00175123PHASE4UNKNOWNEffect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele
NCT04652908PHASE1/PHASE2RECRUITINGCellular Therapy for In Utero Repair of Myelomeningocele - The CuRe Trial
NCT03090633Not specifiedACTIVE_NOT_RECRUITINGFetoscopic Repair of Isolated Fetal Spina Bifida
NCT03410667Not specifiedACTIVE_NOT_RECRUITINGIncontinence and Quality of Life in Children With Spina Bifida
NCT03788122Not specifiedRECRUITINGFetal Surgery Interview Study: Parental Perceptions of Fetal Surgery
NCT03856034Not specifiedRECRUITINGLaparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele
NCT04243889Not specifiedACTIVE_NOT_RECRUITINGFetoscopic NEOX Cord 1K® Spina Bifida Repair
NCT04362592Not specifiedACTIVE_NOT_RECRUITINGIn-Utero Endoscopic Correction of Spina Bifida
NCT06042140Not specifiedRECRUITINGCryopreserved Human Umbilical Cord as a Meningeal Patch in Fetoscopic Spina Bifida Repair
NCT06405698Not specifiedNOT_YET_RECRUITINGRole of Perforator Flaps in Back Defects Reconstruction
NCT06560788Not specifiedNOT_YET_RECRUITINGThe Role of CSF in Chiari II Brain Malformation
NCT06796972Not specifiedRECRUITINGIn Utero Surgery for Fetal Myelomeningocele: Decision-making Mechanisms and Psychological Impact of Prenatal Therapy
NCT06918119Not specifiedRECRUITINGTranscutaneous Spinal Stimulation for Children and Youth With Spina Bifida
NCT07048691Not specifiedACTIVE_NOT_RECRUITINGPrenatal and Postnatal Ultrasonographic Evaluation of Myelomeningocele to Predict Post-Surgical Outcomes
NCT07465055Not specifiedACTIVE_NOT_RECRUITINGOperating Room Extubation and Postoperative Outcomes in Neonates With Meningomyelocele
NCT07615686Not specifiedRECRUITINGtSCS in Children With Spina Bifida
NCT00060606Not specifiedCOMPLETEDManagement of Myelomeningocele Study (MOMS)
NCT01208584Not specifiedCOMPLETEDBrain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions
NCT02227407Not specifiedUNKNOWNReciprocating Gait Orthoses for Paraplegia Patients
NCT02368223Not specifiedCOMPLETEDFeasibility of the Portable YouGrabber System
NCT02390895Not specifiedCOMPLETEDPrenatal Endoscopic Repair of Fetal Spina Bifida
NCT02493062Not specifiedTERMINATEDEvaluation of Hysterotomy Site After Open Fetal Surgery
NCT02509377Not specifiedTERMINATEDFetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0
NCT02595411Not specifiedCOMPLETEDReliability of the Melbourne Assessment
NCT02664207Not specifiedCOMPLETEDExtended Criteria For Fetal Myelomeningocele Repair
NCT03061084Not specifiedUNKNOWNProspective Cohort of Transitional Urology Patients
NCT03073382Not specifiedCOMPLETEDRisk Factors Associated With Spontaneous Preterm Delivery Status Post Open Fetal Myelomeningocele Repair
NCT03088761Not specifiedUNKNOWNCuff Pressure in Infants
NCT03315637Not specifiedUNKNOWNFetal Endoscopic Surgery for Spina Bifida
NCT03550898Not specifiedCOMPLETEDCan Dynamic Ultrasonography Replace Urodynamics in Follow-up of Patients With Myelomeningocele
NCT03562286Not specifiedUNKNOWNOpen Spina Bifida Fetoscopic Repair Project
NCT03936322Not specifiedCOMPLETEDMinimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study
NCT04027374Not specifiedCOMPLETEDStress-associated Epigenetic Alterations in Newborns After Fetal Surgery
NCT04251806Not specifiedCOMPLETEDSleep-disordered Breathing in Infants With Myelomeningocele
NCT04356703Not specifiedCOMPLETEDFetoscopic Open Spina Bifida Repair Using the SAFER Technique
NCT04468568Not specifiedCOMPLETEDIn Utero Repair of Myelomeningocele: Atosiban Versus Terbutaline
NCT04484441Not specifiedCOMPLETEDMaternal-fetal Immune Responses to Fetal Surgery
NCT04738539Not specifiedUNKNOWNEfficacy of Contrast Enhanced Voiding Urosonography for Urodynamic Studies
NCT04789746Not specifiedUNKNOWNReady, Set, Go! A Physical Fitness Intervention for Children With Mobility Challenges
NCT05188300Not specifiedCOMPLETEDPropellers Flaps for Meningomylocele Defects

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
ATOSIBAN41
BOTULINUM TOXIN TYPE A41
TERBUTALINE41