ORPHA:98904
Congenital myopathy with excess of thin filaments
Also known as: Actin myopathy
Publications
86
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
518
Distinct authors in sample
Gene link
ACTA1
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008070
- MeSH:C579880
- MeSH:C580202
- OMIM:161800
- UMLS:C3711389
- NCIT:C129870
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — ACTA1
- LiteraturePresent
86 matched papers (40 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; 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)
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?
86
86 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.
86 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).
40 in the last 10 years · high confidence · 49.6th percentile (publications denominator)
Phrase hits: 84 · MeSH hits: 4
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.
- 01Laing 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 - 02North 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 - 03Nowak KJ6 papers · 2015
Centre for Neuromuscular Disorders, University of Western Australia, Nedlands, Western Australia 6009, Australia.
Papers in Europe PMC - 04
- 05Ilkovski B5 papers · 2015
Institute for Neuromuscular Research, The Children's Hospital at Westmead, Westmead NSW 2145, Sydney, Australia.
Papers in Europe PMC - 06Cooper ST4 papers · 2015Papers in Europe PMC
- 07Goebel HH4 papers · 2004
Division of Neuropathology, Johannes Gutenberg University, Mainz, Germany.
Papers in Europe PMC - 08Lawlor 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 - 09Machesky LM4 papers · 2010Papers in Europe PMC
- 10Wallgren-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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 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 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.
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
- NCT06833489·RECRUITING·Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Conditions: Rare Genetic Muscle Diseases · Muscular Dystrophy, Duchenne · Muscular Dystrophy, Becker · Congenital Myopathy·Matched via name phrase
Observational and natural-history studies
2 observational studies match 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
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 recall expansion
- NCT07488806·RECRUITING·Natural History Study for Patients With Nemaline Myopathy in Spain
Conditions: Nemaline Myopathy · Myopathies · Myopathic Conditions · NEB·Matched via recall expansion
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.
"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"
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" OR "ACTA1" OR "severe congenital nemaline myopathy" OR "intermediate nemaline myopathy" OR "typical nemaline myopathy"
Recall-expansion terms: ACTA1, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"congenital myopathy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
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 2026-07-27T05:41:46.407Z