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ORPHA:300751

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

low confidenceDisorder

Publications

16,237

Trials

1

Interventional, condition-specific

Researchers

425

Distinct authors in sample

Gene link

LMNA

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare familial characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal .

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 (8)

CDCD1 · LMNA familial isolated dilated cardiomyopathy · cardiomyopathy dilated with conduction defect type 1 · cardiomyopathy, dilated, type 1A · dilated cardiomyopathy 1A · dilated cardiomyopathy type 1A · familial dilated cardiomyopathy with conduction defect due to LMNA mutation · familial isolated dilated cardiomyopathy caused by mutation in LMNA

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — LMNA

  2. LiteraturePresent

    16,237 matched papers (11,426 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Atrial fibrillation; Abnormal left ventricular function; Lipodystrophy) Source

  4. Animal modelPresent

    16 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?

Yes — we know a specific gene responsible (LMNA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0007269

  • Atrial fibrillation
  • Abnormal left ventricular function
  • Lipodystrophy
  • Congestive heart failure
  • Muscular dystrophy

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

16

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?

16,237

16,237 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.

16,237 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).

11,426 in the last 10 years · low confidence

Phrase hits: 68 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

425

Distinct author names in 68 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
    Bonne G6 papers · 2021

    Sorbonne Université, Inserm, Center of Research in Myology, G.H. Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  2. 02
    Worman HJ5 papers · 2011

    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA. hjw14@columbia.edu

    Papers in Europe PMC
  3. 03
    Muchir A4 papers · 2011

    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY, USA.

    Papers in Europe PMC
  4. 04
    Cacabelos R3 papers · 2012

    EuroEspes Biomedical Research Center, Institute for CNS Disorders and Genomic Medicine, EuroEspes Chair of Biotechnology and Genomics, Camilo José Cela University, 15165 Bergondo, Spain.

    Papers in Europe PMC
  5. 05
    Collins FS3 papers · 2006
    Papers in Europe PMC
  6. 06
    De Sandre-Giovannoli A3 papers · 2021

    INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France.

    Papers in Europe PMC
  7. 07
    Erdos MR3 papers · 2006
    Papers in Europe PMC
  8. 08
    Gordon LB3 papers · 2006
    Papers in Europe PMC
  9. 09
    Shan J3 papers · 2011
    Papers in Europe PMC
  10. 10
    Varga R3 papers · 2006

    Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

    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. 2 trials are registered for familial dilated cardiomyopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 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).

low 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.

Broader category: familial dilated cardiomyopathy

2

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

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 2026-07-30

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 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation — 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.

("Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" OR "CDCD1" OR "LMNA familial isolated dilated cardiomyopathy" OR "cardiomyopathy dilated with conduction defect type 1" OR "cardiomyopathy, dilated, type 1A" OR "dilated cardiomyopathy 1A" OR "dilated cardiomyopathy type 1A" OR "familial isolated dilated cardiomyopathy caused by mutation in LMNA") OR ("LMNA" OR "LMNA syndrome" OR "LMNA-related")

Run this search on Europe PMC

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

"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation" OR "CDCD1" OR "LMNA familial isolated dilated cardiomyopathy" OR "cardiomyopathy dilated with conduction defect type 1" OR "cardiomyopathy, dilated, type 1A" OR "dilated cardiomyopathy 1A" OR "dilated cardiomyopathy type 1A" OR "familial isolated dilated cardiomyopathy caused by mutation in LMNA"

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 · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"familial dilated cardiomyopathy"

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 (16237) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T12:43:08.766Z