ORPHA:98853
Autosomal dominant Emery-Dreifuss muscular dystrophy
Also known as: EDMD2
Publications
386
77.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,179
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (2)
Emery-Dreifuss muscular dystrophy, autosomal dominant · autosomal dominant Emery-Dreifuss muscular dystrophy
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
386 matched papers (182 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
386
386 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.
386 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).
182 in the last 10 years · high confidence · 77.2th percentile (publications denominator)
Phrase hits: 386 · MeSH hits: 0
Who's working on it?
1,179
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.
- 01Bonne G27 papers · 2026
INSERM U974; UPMC Université Paris 6; CNRS UMR 7215; Institut de Myologie, Paris, France.
Papers in Europe PMC - 02Lattanzi G14 papers · 2025
CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy. giovanna.lattanzi@cnr.it.
Papers in Europe PMC - 03Worman HJ11 papers · 2022
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. hjw14@columbia.edu
Papers in Europe PMC - 04Capanni C7 papers · 2022
Institute of Molecular Genetics (IGM)-CNR, Unit of Bologna, Bologna, Italy.
Papers in Europe PMC - 05Cenni V7 papers · 2024
CNR National Research Council of Italy, Institute of Molecular Genetics, Unit of Bologna, 40136 Bologna, Italy. vittoria.cenni@cnr.it.
Papers in Europe PMC - 06Mattioli E7 papers · 2025
Institute for Molecular Genetics, IGM-CNR, Unit of Bologna, Bologna, Italy.
Papers in Europe PMC - 07Muntoni F7 papers · 2022
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom.
Papers in Europe PMC - 08Schwartz K7 papers · 2005Papers in Europe PMC
- 09Columbaro M6 papers · 2018
k Laboratory of Musculoskeletal Cell Biology , Rizzoli Orthopaedic Institute , Bologna , Italy.
Papers in Europe PMC - 10
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.
"Autosomal dominant Emery-Dreifuss muscular dystrophy" OR "EDMD2" OR "Emery-Dreifuss muscular dystrophy, autosomal dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant Emery-Dreifuss muscular dystrophy" OR "EDMD2" OR "Emery-Dreifuss muscular dystrophy, autosomal dominant"
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; 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 2026-07-27T05:36:10.187Z