ORPHA:98863
X-linked Emery-Dreifuss muscular dystrophy
Publications
264
65.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,061
Distinct authors in sample
Gene link
EMD
Definitive
Readiness
3/6
Stages with a signal
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010680
- MeSH:D000083143
- UMLS:C0751337
Additional Mondo synonyms (2)
Emerinopathy · Emery-Dreifuss muscular dystrophy, X-linked
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — EMD
- LiteraturePresent
264 matched papers (94 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 trialPartial
None under the specific name; 1 for broader category Emery-Dreifuss muscular dystrophy
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 (EMD).
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?
264
264 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
264 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).
94 in the last 10 years · high confidence · 65.4th percentile (publications denominator)
Phrase hits: 264 · MeSH hits: 7
Who's working on it?
1,061
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.
- 01Worman HJ14 papers · 2022
Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, 10th Floor, Room 508, New York, NY 10032, USA.
Papers in Europe PMC - 02Ellis JA12 papers · 2020
Department of Pathology, University of Cambridge, Cambridge CB2 2QQ, UK. jae11@mole.bio.cam.ac.uk
Papers in Europe PMC - 03Politano L11 papers · 2026
Department of Experimental Medicine, Second University of Naples, Italy. luisa.politano@unina2.it
Papers in Europe PMC - 04Madej-Pilarczyk A10 papers · 2021
Neuromuscular Unit, Polish Academy of Sciences, Mossakowski Medical Research Centre, Warszawa, Poland, agamadpil@gmail.com.
Papers in Europe PMC - 05Holaska JM8 papers · 2022
Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
Papers in Europe PMC - 06Morris GE8 papers · 2015
MRIC Biochemistry Group, The North East Wales Institute, LL11 2AW, Wrexham, UK. morrisge@newi.ac.uk
Papers in Europe PMC - 07Kendrick-Jones J7 papers · 2006Papers in Europe PMC
- 08Nigro G7 papers · 2019
Arrhythmologic Unit, Department of Cardiology. University of Campania "Luigi Vanvitelli", Naples, Italy.
Papers in Europe PMC - 09Toniolo D7 papers · 2004Papers in Europe PMC
- 10Bonne G6 papers · 2023
Sorbonne Université, Inserm UMRS 974, Center of Research in Myology, Paris, France.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for Emery-Dreifuss muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
1 interventional trial matched Emery-Dreifuss muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Emery-Dreifuss muscular dystrophy
1
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05394506·RECRUITING·Modifying Factors in Striated Muscle Laminopathies
Conditions: Laminopathies · Emery Dreifuss Muscular Dystrophy 2 · LMNA-Related Congenital Muscular Dystrophy · Dilated Cardiomyopathy-1A·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.
"X-linked Emery-Dreifuss muscular dystrophy" OR "Emerinopathy" OR "Emery-Dreifuss muscular dystrophy, X-linked"
MeSH descriptor terms unioned into the query: X-Linked Emery-Dreifuss Muscular Dystrophy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked Emery-Dreifuss muscular dystrophy" OR "Emerinopathy" OR "Emery-Dreifuss muscular dystrophy, X-linked" OR "EMD"
Recall-expansion terms: EMD
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Emery-Dreifuss muscular dystrophy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
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 2026-07-27T05:37:11.348Z