RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:588

Muscle-eye-brain disease

low confidenceDisorder

Also known as: MEB syndrome · Muscle-eye-brain syndrome · Santavuori congenital muscular dystrophy

Publications

1,368

Trials

0

Interventional, condition-specific

Researchers

1,171

Distinct authors in sample

Gene link

POMGNT1, RXYLT1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, muscular due to dystroglycanopathy characterized by early onset muscular , severe muscular , severe and typical brain and eye malformations including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. A broad clinical spectrum is observed with variable involvement of each organ system.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

muscle-eye-brain syndrome

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — POMGNT1, RXYLT1

  2. LiteraturePresent

    1,368 matched papers (706 in last 10 years) Source

  3. Phenotype characterisedPresent

    342 HPO annotations (e.g. Elevated circulating creatine kinase activity; Hypoplasia of the brainstem; Agyria) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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?

Yes — we know a specific gene responsible (POMGNT1, RXYLT1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

342

Associated phenotypes · MONDO:0018939

  • Elevated circulating creatine kinase activity
  • Hypoplasia of the brainstem
  • Agyria
  • Hypoplasia of the pons
  • Type II lissencephaly

Showing 5 of 342 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,368

1,368 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,368 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).

706 in the last 10 years · low confidence

Phrase hits: 687 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,171

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.

  1. 01
    Brancaccio A9 papers · 2025

    Institute of Chemical Sciences and Technologies "Giulio Natta" (SCITEC)-CNR, L.go F. Vito 1, 00168 Rome, Italy.

    Papers in Europe PMC
  2. 02
    Toda T9 papers · 2026

    Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan;

    Papers in Europe PMC
  3. 03
    Xiong H9 papers · 2026

    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

    Papers in Europe PMC
  4. 04
    Bozzi M7 papers · 2025

    Dipartimento di Scienze Biotecnologiche di Base, Cliniche Intensivologiche e Perioperatorie, Università Cattolica del Sacro Cuore, L.go F. Vito 1, 00168 Rome, Italy.

    Papers in Europe PMC
  5. 05
    Sciandra F7 papers · 2025

    Institute of Chemical Sciences and Technologies "Giulio Natta" (SCITEC)-CNR, L.go F. Vito 1, 00168 Rome, Italy.

    Papers in Europe PMC
  6. 06
    Bigotti MG6 papers · 2025

    School of Translational Health Sciences, Research Floor Level 7, Bristol Royal Infirmary, Upper Maudlin Street, BS2 8HW Bristol, U.K.

    Papers in Europe PMC
  7. 07
    Yang Y6 papers · 2026

    Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York 13210, USA.

    Papers in Europe PMC
  8. 08
    Endo T5 papers · 2022

    Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, Itabashi-ku, Tokyo 173-0015, Japan; ryuichi.kato@kek.jp endo@tmig.or.jp.

    Papers in Europe PMC
  9. 09
    Hu H5 papers · 2022

    Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York 13210, USA. huh@upstate.edu

    Papers in Europe PMC
  10. 10
    Kanagawa M5 papers · 2026

    Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan;

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

2 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

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Muscle-eye-brain disease — 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.

("Muscle-eye-brain disease" OR "MEB syndrome" OR "Muscle-eye-brain syndrome" OR "Santavuori congenital muscular dystrophy") OR ("POMGNT1" OR "POMGNT1 syndrome" OR "POMGNT1-related" OR "RXYLT1" OR "RXYLT1 syndrome" OR "RXYLT1-related")

Run this search on Europe PMC

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

"Muscle-eye-brain disease" OR "MEB syndrome" OR "Muscle-eye-brain syndrome" OR "Santavuori congenital muscular dystrophy"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

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
  • Publication count (1368) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:28:09.999Z