ORPHA:171442
Adult-onset nemaline myopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
49
26.3th percentile
Trials
0
Interventional, condition-specific
Researchers
266
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rapidly type of nemaline (NM) characterized by a very late onset.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015739
- UMLS:C0546123
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
49 matched papers (9 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; 5 for broader category nemaline 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
49
49 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.
49 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).
9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)
Phrase hits: 49 · MeSH hits: 0
Who's working on it?
266
Distinct author names in 49 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.
- 01
- 02Laing NG4 papers · 2014
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, QEII Medical Centre, Western Australia, Australia. nlaing@cyllene.uwa.edu.au
Papers in Europe PMC - 03Nishino I3 papers · 2024
National Center of Neurology and Psychiatry, 4-1-1 Kodaira, Tokyo 187-8502, Japan.
Papers in Europe PMC - 04Nonaka I3 papers · 2000Papers in Europe PMC
- 05North KN3 papers · 2014
Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia. Electronic address: kathryn.north@mcri.edu.au.
Papers in Europe PMC - 06Kondo M2 papers · 2022
Department of Respiratory Medicine, Fujita Health University School of Medicine, Japan.
Papers in Europe PMC - 07Layzer RB2 papers · 2009Papers in Europe PMC
- 08Nakagawa M2 papers · 2009
Third Department of Internal Medicine, Kagoshima University Faculty of Medicine.
Papers in Europe PMC - 09Pfeffer G2 papers · 2016
Department of Clinical Neurosciences, gerald.pfeffer2@ucalgary.ca.
Papers in Europe PMC - 10Povitz M2 papers · 2016
Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
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). 5 trials are registered for nemaline 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.
5 interventional trials matched nemaline myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: nemaline myopathy
5
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
- NCT07201636·NOT YET RECRUITING·Natural History Study for Patients With Nemaline Myopathy in Belgium
Conditions: Nemaline Myopathy·Matched via name phrase
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
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.
"Adult-onset nemaline myopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adult-onset nemaline myopathy" OR "congenital structural myopathy"
Recall-expansion terms: congenital structural myopathy
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"nemaline myopathy"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T08:39:25.509Z