Spina bifida cystica
disease diseaseOn this page
Also known as meningomyelocelemyelomeningoceleopen spina bifidaspina bifida apertaspina bifida manifestaspina bifida, open
Summary
Spina bifida cystica (MONDO:0017069) is a disease (an umbrella term covering 5 Mondo subtypes) and 45 clinical trials. Top therapeutic interventions include atosiban, botulinum toxin type a, and terbutaline. A subtype of isolated spina bifida — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: 1-5 / 10 000 (Saudi Arabia) [Orphanet-validated]
- Umbrella term: 5 Mondo subtypes
- Clinical trials: 45
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 33 | Saudi Arabia | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | spina bifida cystica |
| Mondo ID | MONDO:0017069 |
| MeSH | D016137 |
| Orphanet | 268744 |
| ICD-11 | 979482551 |
| NCIT | C101201 |
| UMLS | C0037917 |
| MedGen | 21277 |
| GARD | 0020958 |
| MedDRA | 10071011 |
| Is cancer (heuristic) | no |
Also known as: meningomyelocele · myelomeningocele · open spina bifida · spina bifida aperta · spina bifida manifesta · spina bifida, open
Data availability: 4 cell lines.
Disease family
This is a subtype of isolated spina bifida. 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 › congenital nervous system disorder › spina bifida › isolated spina bifida › spina bifida cystica
Related subtypes (3): neural tube defects, X-linked, neural tube defects, folate-sensitive, spina bifida aperta
Subtypes (5): Chiari malformation type II, posterior meningocele, myelocystocele, myelomeningocele, saccular spinal dysraphism with a stalk to the dome
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: 45.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 43 |
| PHASE4 | 1 |
| PHASE1/PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00175123 | PHASE4 | UNKNOWN | Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele |
| NCT04652908 | PHASE1/PHASE2 | RECRUITING | Cellular Therapy for In Utero Repair of Myelomeningocele - The CuRe Trial |
| NCT03090633 | Not specified | ACTIVE_NOT_RECRUITING | Fetoscopic Repair of Isolated Fetal Spina Bifida |
| NCT03410667 | Not specified | ACTIVE_NOT_RECRUITING | Incontinence and Quality of Life in Children With Spina Bifida |
| NCT03788122 | Not specified | RECRUITING | Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery |
| NCT03856034 | Not specified | RECRUITING | Laparotomy Versus Percutaneous Endoscopic Correction of Myelomeningocele |
| NCT04243889 | Not specified | ACTIVE_NOT_RECRUITING | Fetoscopic NEOX Cord 1K® Spina Bifida Repair |
| NCT04362592 | Not specified | ACTIVE_NOT_RECRUITING | In-Utero Endoscopic Correction of Spina Bifida |
| NCT06042140 | Not specified | RECRUITING | Cryopreserved Human Umbilical Cord as a Meningeal Patch in Fetoscopic Spina Bifida Repair |
| NCT06405698 | Not specified | NOT_YET_RECRUITING | Role of Perforator Flaps in Back Defects Reconstruction |
| NCT06560788 | Not specified | NOT_YET_RECRUITING | The Role of CSF in Chiari II Brain Malformation |
| NCT06796972 | Not specified | RECRUITING | In Utero Surgery for Fetal Myelomeningocele: Decision-making Mechanisms and Psychological Impact of Prenatal Therapy |
| NCT06907732 | Not specified | NOT_YET_RECRUITING | Fetoscopic Robotic Open Spina Bifida Treatment |
| NCT06918119 | Not specified | RECRUITING | Transcutaneous Spinal Stimulation for Children and Youth With Spina Bifida |
| NCT07048691 | Not specified | ACTIVE_NOT_RECRUITING | Prenatal and Postnatal Ultrasonographic Evaluation of Myelomeningocele to Predict Post-Surgical Outcomes |
| NCT07465055 | Not specified | ACTIVE_NOT_RECRUITING | Operating Room Extubation and Postoperative Outcomes in Neonates With Meningomyelocele |
| NCT07615686 | Not specified | RECRUITING | tSCS in Children With Spina Bifida |
| NCT00060606 | Not specified | COMPLETED | Management of Myelomeningocele Study (MOMS) |
| NCT01208584 | Not specified | COMPLETED | Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions |
| NCT01606618 | Not specified | TERMINATED | Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury |
| NCT02227407 | Not specified | UNKNOWN | Reciprocating Gait Orthoses for Paraplegia Patients |
| NCT02368223 | Not specified | COMPLETED | Feasibility of the Portable YouGrabber System |
| NCT02390895 | Not specified | COMPLETED | Prenatal Endoscopic Repair of Fetal Spina Bifida |
| NCT02493062 | Not specified | TERMINATED | Evaluation of Hysterotomy Site After Open Fetal Surgery |
| NCT02509377 | Not specified | TERMINATED | Fetal Myelomeningocele Repair With Maternal BMI Between 35.0 and 40.0 |
| NCT02595411 | Not specified | COMPLETED | Reliability of the Melbourne Assessment |
| NCT02664207 | Not specified | COMPLETED | Extended Criteria For Fetal Myelomeningocele Repair |
| NCT03061084 | Not specified | UNKNOWN | Prospective Cohort of Transitional Urology Patients |
| NCT03073382 | Not specified | COMPLETED | Risk Factors Associated With Spontaneous Preterm Delivery Status Post Open Fetal Myelomeningocele Repair |
| NCT03088761 | Not specified | UNKNOWN | Cuff Pressure in Infants |
| NCT03315637 | Not specified | UNKNOWN | Fetal Endoscopic Surgery for Spina Bifida |
| NCT03550898 | Not specified | COMPLETED | Can Dynamic Ultrasonography Replace Urodynamics in Follow-up of Patients With Myelomeningocele |
| NCT03562286 | Not specified | UNKNOWN | Open Spina Bifida Fetoscopic Repair Project |
| NCT03936322 | Not specified | COMPLETED | Minimally Invasive Fetoscopic Regenerative Repair of Spina Bifida - A Pilot Study |
| NCT04027374 | Not specified | COMPLETED | Stress-associated Epigenetic Alterations in Newborns After Fetal Surgery |
| NCT04251806 | Not specified | COMPLETED | Sleep-disordered Breathing in Infants With Myelomeningocele |
| NCT04356703 | Not specified | COMPLETED | Fetoscopic Open Spina Bifida Repair Using the SAFER Technique |
| NCT04468568 | Not specified | COMPLETED | In Utero Repair of Myelomeningocele: Atosiban Versus Terbutaline |
| NCT04484441 | Not specified | COMPLETED | Maternal-fetal Immune Responses to Fetal Surgery |
| NCT04738539 | Not specified | UNKNOWN | Efficacy of Contrast Enhanced Voiding Urosonography for Urodynamic Studies |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ATOSIBAN | 4 | 1 |
| BOTULINUM TOXIN TYPE A | 4 | 1 |
| TERBUTALINE | 4 | 1 |
Related Atlas pages
- Drugs: Atosiban, Botulinum Toxin Type A, Terbutaline