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ORPHA:98904

Congenital myopathy with excess of thin filaments

low confidenceDisorder

Also known as: Actin myopathy

Publications

5,096

Trials

0

Interventional, condition-specific

Researchers

518

Distinct authors in sample

Gene link

ACTA1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline -like disease (including , lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

ACTA1 nemaline myopathy · CMYO2A · actin accumulation myopathy · actin accumulation myopathy (disorder) · actin myopathy · congenital myopathy 2a, typical, autosomal dominant · congenital myopathy with excess of thin filaments · nemaline myopathy caused by mutation in ACTA1 · nemaline myopathy type 3

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

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

  1. Gene identifiedPresent

    Definitive — ACTA1

  2. LiteraturePresent

    5,096 matched papers (3,669 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Hypertonia; Rigidity; Hyperreflexia) Source

  4. Animal modelPresent

    4 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 trialPartial

    None under the specific name; 6 for broader category congenital 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 (ACTA1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0008070

  • Hypertonia
  • Rigidity
  • Hyperreflexia
  • Motor delay
  • Feeding difficulties in infancy

Showing 5 of 38 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

5,096

5,096 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.

5,096 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).

3,669 in the last 10 years · low confidence

Phrase hits: 84 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

518

Distinct author names in 86 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
    Laing NG10 papers · 2015

    1 Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

    Papers in Europe PMC
  2. 02
    North KN7 papers · 2015

    1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia [3] Murdoch Childrens Research Institute, Melbourne, Victoria, Australia [4] Faculty of Medicine, University of Melbourne, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  3. 03
    Nowak KJ6 papers · 2015

    Centre for Neuromuscular Disorders, University of Western Australia, Nedlands, Western Australia 6009, Australia.

    Papers in Europe PMC
  4. 04
    Beggs AH5 papers · 2025

    Children's Hospital Boston, Boston, MA, United States.

    Papers in Europe PMC
  5. 05
    Ilkovski B5 papers · 2015

    Institute for Neuromuscular Research, The Children's Hospital at Westmead, Westmead NSW 2145, Sydney, Australia.

    Papers in Europe PMC
  6. 06
    Cooper ST4 papers · 2015
    Papers in Europe PMC
  7. 07
    Goebel HH4 papers · 2004

    Division of Neuropathology, Johannes Gutenberg University, Mainz, Germany.

    Papers in Europe PMC
  8. 08
    Lawlor MW4 papers · 2025

    Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine and Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin.

    Papers in Europe PMC
  9. 09
    Machesky LM4 papers · 2010
    Papers in Europe PMC
  10. 10
    Wallgren-Pettersson C4 papers · 2019

    Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.

    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 congenital 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 congenital myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital 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 Congenital myopathy with excess of thin filaments — 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.

("Congenital myopathy with excess of thin filaments" OR "Congenital myopathy with excess of the thin filaments" OR "Actin myopathy" OR "ACTA1 nemaline myopathy" OR "CMYO2A" OR "actin accumulation myopathy" OR "actin accumulation myopathy (disorder)" OR "congenital myopathy 2a, typical, autosomal dominant" OR "nemaline myopathy caused by mutation in ACTA1" OR "nemaline myopathy type 3") OR (MESH:"Actin-Accumulation Myopathy" OR MESH:"Intranuclear Rod Myopathy") OR ("ACTA1" OR "ACTA1 syndrome" OR "ACTA1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Actin-Accumulation Myopathy; Intranuclear Rod Myopathy

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

"Congenital myopathy with excess of thin filaments" OR "Congenital myopathy with excess of the thin filaments" OR "Actin myopathy" OR "ACTA1 nemaline myopathy" OR "CMYO2A" OR "actin accumulation myopathy" OR "actin accumulation myopathy (disorder)" OR "congenital myopathy 2a, typical, autosomal dominant" OR "nemaline myopathy caused by mutation in ACTA1" OR "nemaline myopathy type 3" OR "Actin-Accumulation Myopathy" OR "Intranuclear Rod Myopathy"

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

Parent-category trials query:

"congenital myopathy"

Query health: ok — strategies attempted: phrase, mesh; 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
  • Publication count (5096) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T05:41:46.407Z