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ORPHA:169189

Autosomal dominant centronuclear myopathy

low confidenceDisorder

Also known as: AD-CNM

Publications

3,205

Trials

0

Interventional, condition-specific

Researchers

1,390

Distinct authors in sample

Gene link

DNM2, MTMR14

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a (, distal/proximal muscle weakness, rib cage deformities (sometimes associated with respiratory insufficiency), ptosis, ophthalmoparesis and weakness of the muscles of facial expression with facial features.

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 (12)

CNM1 · autosomal dominant centronuclear myopathy · autosomal dominant centronuclear myopathy caused by mutation in MYF6 · centronuclear myopathy 1 · centronuclear myopathy, autosomal dominant · centronuclear myopathy, autosomal, modifier of · myopathy, centronuclear, 1 · myopathy, centronuclear, 3 · myopathy, centronuclear, autosomal dominant · myopathy, centronuclear, type 1 · myopathy, centronuclear, type 3 · myotubular myopathy, autosomal dominant

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — DNM2, MTMR14

  2. LiteraturePresent

    3,205 matched papers (2,218 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Cavernous hemangioma; Large for gestational age; Decreased fetal movement) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 6 for broader category centronuclear myopathy

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 (DNM2, MTMR14).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0008048

  • Cavernous hemangioma
  • Large for gestational age
  • Decreased fetal movement
  • EMG: myopathic abnormalities
  • Type 1 muscle fiber predominance

Showing 5 of 60 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

3,205

3,205 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=3967) is 59.

3,205 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).

2,218 in the last 10 years · low confidence

Phrase hits: 356 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,390

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.

  1. 01
    Bitoun M26 papers · 2025

    Research Center for Myology, Institut de Myologie, UMRS 974, INSERM, Sorbonne Université, Paris, France.

    Papers in Europe PMC
  2. 02
    Laporte J14 papers · 2022

    Dpt Translational Medicine, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, Université de Strasbourg, CNRS UMR7104, Illkirch, France. jocelyn@igbmc.fr.

    Papers in Europe PMC
  3. 03
    Guicheney P13 papers · 2019

    UMRS 1166, INSERM, Institute of Cardiometabolism and Nutrition (ICAN), Paris, France.

    Papers in Europe PMC
  4. 04
    Prudhon B10 papers · 2022

    Research Center for Myology, Institute of Myology, UPMC Univ Paris, Paris, France.

    Papers in Europe PMC
  5. 05
    Romero NB9 papers · 2025

    Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, Paris, France.

    Papers in Europe PMC
  6. 06
    Böhm J7 papers · 2022

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

    Papers in Europe PMC
  7. 07
    Cowling BS7 papers · 2025

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

    Papers in Europe PMC
  8. 08
    Biancalana V6 papers · 2017

    1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France 6 Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, 67000 Strasbourg, France.

    Papers in Europe PMC
  9. 09
    Nishino I6 papers · 2026

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Japan.

    Papers in Europe PMC
  10. 10
    Beggs AH5 papers · 2025

    Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts3Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

    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). 6 trials are registered for centronuclear myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

6 interventional trials matched centronuclear myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: centronuclear myopathy

6

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 Autosomal dominant centronuclear myopathy — 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.

("Autosomal dominant centronuclear myopathy" OR "AD-CNM" OR "autosomal dominant centronuclear myopathy caused by mutation in MYF6" OR "centronuclear myopathy 1" OR "centronuclear myopathy, autosomal dominant" OR "centronuclear myopathy, autosomal, modifier of" OR "myopathy, centronuclear, 1" OR "myopathy, centronuclear, 3" OR "myopathy, centronuclear, autosomal dominant" OR "myopathy, centronuclear, type 1" OR "myopathy, centronuclear, type 3" OR "myotubular myopathy, autosomal dominant") OR ("DNM2" OR "DNM2 syndrome" OR "DNM2-related" OR "MTMR14" OR "MTMR14 syndrome" OR "MTMR14-related")

Run this search on Europe PMC

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

"Autosomal dominant centronuclear myopathy" OR "AD-CNM" OR "autosomal dominant centronuclear myopathy caused by mutation in MYF6" OR "centronuclear myopathy 1" OR "centronuclear myopathy, autosomal dominant" OR "centronuclear myopathy, autosomal, modifier of" OR "myopathy, centronuclear, 1" OR "myopathy, centronuclear, 3" OR "myopathy, centronuclear, autosomal dominant" OR "myopathy, centronuclear, type 1" OR "myopathy, centronuclear, type 3" OR "myotubular myopathy, autosomal dominant"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"centronuclear myopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CNM1

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
  • Publication count (3205) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:37:02.890Z