ORPHA:588
Muscle-eye-brain disease
Also known as: MEB syndrome · Muscle-eye-brain syndrome · Santavuori congenital muscular dystrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
687
81.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,171
Distinct authors in sample
Gene link
POMGNT1, RXYLT1
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018939
- UMLS:C0457133
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — POMGNT1, RXYLT1
- LiteraturePresent
687 matched papers (237 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
687
687 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=5449) is 41.
687 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
237 in the last 10 years · high confidence · 81.2th percentile (publications denominator)
Phrase hits: 687 · MeSH hits: 0
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.
- 01Brancaccio 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 - 02Toda T9 papers · 2026
Division of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Hyogo 650-0017, Japan;
Papers in Europe PMC - 03Xiong H9 papers · 2026
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Papers in Europe PMC - 04Bozzi 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 - 05Sciandra 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 - 06Bigotti 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 - 07Yang Y6 papers · 2026
Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York 13210, USA.
Papers in Europe PMC - 08Endo 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 - 09Hu H5 papers · 2022
Department of Neuroscience and Physiology, Upstate Medical University, Syracuse, New York 13210, USA. huh@upstate.edu
Papers in Europe PMC - 10Kanagawa 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "POMGNT1" OR "RXYLT1"
Recall-expansion terms: POMGNT1, RXYLT1
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T14:28:09.999Z