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ORPHA:171439

Childhood-onset nemaline myopathy

high confidenceDisorder

Also known as: Mild nemaline myopathy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

66

48th percentile

Trials

0

Interventional, condition-specific

Researchers

548

Distinct authors in sample

Gene link

TNNI1

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Childhood onset nemaline , or mild nemaline is a type of nemaline (NMs) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

mild nemaline myopathy

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.

  1. Gene identifiedPresent

    Limited — TNNI1

  2. LiteraturePresent

    66 matched papers (37 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. 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?

Possibly — only limited evidence so far for TNNI1.

GenCC classification: Limited.

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?

66

66 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.

66 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).

37 in the last 10 years · high confidence · 48th percentile (publications denominator)

Phrase hits: 66 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

548

Distinct author names in 66 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 NG5 papers · 2018

    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
  2. 02
    Wedderburn LR5 papers · 2023

    Infection, Immunology, and Rheumatology Section UCL Institute of Child Health, University College London, London, UK. l.wedderburn@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Chinoy H4 papers · 2023

    Rheumatic Diseases Centre, Hope Hospital, Salford, UK. hector.chinoy@manchester.ac.uk

    Papers in Europe PMC
  4. 04
    Jungbluth H4 papers · 2025

    Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St. Thomas' Hospital NHS Foundation Trust, London, UK; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.

    Papers in Europe PMC
  5. 05
    Ollier WE4 papers · 2023

    Manchester Metropolitan University, School of Healthcare Sciences, Manchester, UK.

    Papers in Europe PMC
  6. 06
    Wallgren-Pettersson C4 papers · 2019

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

    Papers in Europe PMC
  7. 07
    Cooper RG3 papers · 2011
    Papers in Europe PMC
  8. 08
    Miller FW3 papers · 2023

    National Institute of Environmental Health Sciences, NIH, Bethesda, MD.

    Papers in Europe PMC
  9. 09
    North KN3 papers · 2013

    Neurogenetics Research Unit, Royal Alexandra Hospital for Children, Sydney, Australia.

    Papers in Europe PMC
  10. 10
    Nowak KJ3 papers · 2018

    Centre for Medical Research, The University of Western Australia, Perth, WA, Australia.

    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

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 2026-07-26

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.

"Childhood-onset nemaline myopathy" OR "Mild nemaline myopathy"

Run this search on Europe PMC

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

"Childhood-onset nemaline myopathy" OR "Mild nemaline myopathy" OR "TNNI1" OR "congenital structural myopathy"

Recall-expansion terms: TNNI1, 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 2026-07-27T08:39:17.437Z