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ORPHA:261

Emery-Dreifuss muscular dystrophy

medium confidenceDisorder

Also known as: EDMD

Publications

5,067

92.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,326

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and .

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

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.”

4/6 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

    5,067 matched papers (2,920 in last 10 years) Source

  3. Phenotype characterisedPresent

    343 HPO annotations (e.g. Pectus excavatum; Myopathy; Elevated circulating creatine kinase activity) Source

  4. Animal modelPresent

    5 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 trialPresent

    1 matched on ClinicalTrials.gov (1 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)

343

Associated phenotypes · MONDO:0016830

  • Pectus excavatum
  • Myopathy
  • Elevated circulating creatine kinase activity
  • Short neck
  • Hypertrophic cardiomyopathy

Showing 5 of 343 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

5,067

5,067 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.

5,067 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).

2,920 in the last 10 years · medium confidence · 92.1th percentile (publications denominator)

Phrase hits: 5,067 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,326

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
    Bruno C4 papers · 2026

    Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  2. 02
    Fiorillo C4 papers · 2026

    Pediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.

    Papers in Europe PMC
  3. 03
    Leturcq F4 papers · 2025

    Department of Genomic Medicine and Systemic Diseases, APHP, University of Paris, Cochin Hospital, Paris, France.

    Papers in Europe PMC
  4. 04
    Liu X4 papers · 2026

    Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.

    Papers in Europe PMC
  5. 05
    Pini A4 papers · 2026

    IRCCS Istituto delle Scienze Neurologiche di Bologna, 40124 Bologna, Italy.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    Key Laboratory of Developmental Genes and Human Disease, School of Life Science and Technology, Nanjing 210096, China.

    Papers in Europe PMC
  7. 07
    Ben Yaou R3 papers · 2025

    APHP-Sorbonne Universite, Centre de Référence des Maladies Neuromusculaires, Inserm, Centre de Recherche en Myologie, Institut de Myologie, Hopital Pitie-Salpetriere, Paris, France.

    Papers in Europe PMC
  8. 08
    Bonne G3 papers · 2026

    Sorbonne University, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.

    Papers in Europe PMC
  9. 09
    Cavallo M3 papers · 2026

    Shoulder-Elbow Surgery Unit, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Fan H3 papers · 2026

    Key Laboratory of Combined Multi-organ Transplantation, Ministry of Public Health, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310003, China; Institute of Translational Medicine, Zhejiang University, Hangzhou, 310029, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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

    Not reviewed·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 Emery-Dreifuss muscular dystrophy — 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.

"Emery-Dreifuss muscular dystrophy" OR "Emery Dreifuss Muscular Dystrophy"

Run this search on Europe PMC

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

"Emery-Dreifuss muscular dystrophy" OR "Emery Dreifuss Muscular Dystrophy"

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

Study-type breakdown: 1 interventional · 1 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

Synonyms dropped by stoplist: EDMD

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

Ingested 2026-07-26T13:06:57.519Z