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ORPHA:171439

Childhood-onset nemaline myopathy

low confidenceDisorder

Also known as: Mild nemaline myopathy

Publications

1,507

Trials

0

Interventional, condition-specific

Researchers

548

Distinct authors in sample

Gene link

TNNI1

Limited

Readiness

5/6

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.”

5/6 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

    1,507 matched papers (1,180 in last 10 years) Source

  3. Phenotype characterisedPresent

    232 HPO annotations (e.g. Flexion contracture; Breech presentation; Cardiomyopathy) Source

  4. Animal modelPresent

    10 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; 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)

232

Associated phenotypes · MONDO:0015738

  • Flexion contracture
  • Breech presentation
  • Cardiomyopathy
  • Bulbar signs
  • Scapular winging

Showing 5 of 232 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

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?

1,507

1,507 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.

1,507 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).

1,180 in the last 10 years · low confidence

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 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.

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

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 Childhood-onset nemaline 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.

("Childhood-onset nemaline myopathy" OR "Mild nemaline myopathy") OR ("TNNI1" OR "TNNI1 syndrome" OR "TNNI1-related")

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (1507) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:39:17.437Z