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ORPHA:93969

Open spinal dysraphism with a myelomeningocele

low confidenceDisorder

Also known as: MMC · Myelomeningocele

Publications

8,994

Trials

37

Interventional, condition-specific

Researchers

1,211

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of spina bifida cystica (saccular, open neural tube defect (NTD)) characterized by a non-neurulated spinal cord (neural placode) on the surface of the cystic extension of dysplastic meninges (non-epidermised posterior meningocele). The spinal cord extends through a spina bifida (posterior vertebral defect) with typically everted or parallel laminae. Nerve roots are connected to the borders of the neural placode and are visible inside the sac. Myelomeningocele is characteristically associated with a Chiari II . It can be either isolated or associated with split cord .

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    8,994 matched papers (4,321 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    37 matched on ClinicalTrials.gov (6 recruiting in sample)

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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0019773

CTD chemicals (MyDisease.info)

7 associated chemicals · 28 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Folic Acid · therapeutic
  • Benzodiazepines · marker/mechanism
  • Clomiphene · marker/mechanism
  • Homocysteine · marker/mechanism
  • Lithium Carbonate · marker/mechanism
  • Tretinoin · marker/mechanism
  • Valproic Acid · marker/mechanism

Pathways: One carbon pool by folate; Retinol metabolism; Metabolic pathways; Carbon metabolism; Antifolate resistance; FoxO signaling pathway; Peroxisome; Longevity regulating pathway

MyDisease.info · MONDO:0019773

Literature

Is anyone studying this?

8,994

8,994 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,994 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,321 in the last 10 years · low confidence

Phrase hits: 8,917 · MeSH hits: 249

Open Europe PMC search

Who's working on it?

1,211

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Castillo J9 papers · 2026

    Developmental Medicine, University of Nebraska Medical Center, Omaha, NE, USA.

    Papers in Europe PMC
  2. 02
    Castillo H8 papers · 2026

    Developmental Medicine, University of Nebraska Medical Center, Omaha, NE, USA.

    Papers in Europe PMC
  3. 03
    Corroenne R5 papers · 2026

    Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

    Papers in Europe PMC
  4. 04
    Jouannic JM5 papers · 2026

    Service de médecine fœtale, hôpital Armand-Trousseau, AP-HP.Sorbonne université, DMU ORIGYNE, Paris, France; Centre de référence maladies rares Spin@, AP-HP. Sorbonne université, Paris, France.

    Papers in Europe PMC
  5. 05
    Shaaban AF5 papers · 2026

    Division of Pediatric Surgery, The Chicago Institute for Fetal Health, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago , Illinois , USA.

    Papers in Europe PMC
  6. 06
    Adapa AR4 papers · 2026

    Department of Neurosurgery, Columbia University Irving Medical Center, New York, New York, USA.

    Papers in Europe PMC
  7. 07
    Anadkat J4 papers · 2026

    Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, MO, USA.

    Papers in Europe PMC
  8. 08
    Guilbaud L4 papers · 2026

    Service de médecine fœtale, hôpital Armand-Trousseau, AP-HP.Sorbonne université, DMU ORIGYNE, Paris, France; Unité de thérapie cellulaire, unité Inserm 1342, équipe Biotechnologie des cellules souches, centre d'investigation clinique en biothérapies, hôpital Saint-Louis, AP-HP, université Paris Cité, Paris, France; Centre de référence maladies rares Spin@, AP-HP. Sorbonne université, Paris, France. Electronic address: lucie.guilbaud@aphp.fr.

    Papers in Europe PMC
  9. 09
    Huisman TAGM4 papers · 2026

    Edward B. Singleton Department of Radiology, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Luks FI4 papers · 2026

    Hasbro Children's and Rhode Island Hospital, Providence , Rhode Island , USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

37

interventional trials for this specific condition

37 interventional trials matched this specific condition name; 6 currently recruiting in our sample.

Data as of 11 September 2026

37 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.5th percentile).

low confidence · 96.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

37 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

17 observational studies match 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Open spinal dysraphism with a myelomeningocele — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Open spinal dysraphism with a myelomeningocele" OR "Myelomeningocele"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Meningomyelocele

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Open spinal dysraphism with a myelomeningocele" OR "Myelomeningocele" OR "Meningomyelocele"

Interventional trials matched via: both, phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 37 interventional · 17 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MMC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (8994) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:34:34.217Z