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ORPHA:602

GNE myopathy

medium confidenceDisorder

Also known as: DMRV · Distal myopathy with rimmed vacuoles · Distal myopathy, Nonaka type · HIBM2 · Hereditary inclusion body myopathy type 2 · IBM2 · Inclusion body myopathy type 2 · Nonaka myopathy · Quadriceps-sparing myopathy

Publications

994

84.1th percentile

Trials

11

Interventional, condition-specific

Researchers

1,085

Distinct authors in sample

Gene link

GNE

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

GNE is a rare distal characterized by early adult-onset, slowly to moderately distal muscle weakness that preferentially affects the tibialis anterior muscle and that usually spares the quadriceps femoris. Muscle biopsy reveals presence of rimmed vacuoles.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

distal myopathy with rimmed vacuoles · distal myopathy, Nonaka type · hereditary inclusion body myopathy type 2 · inclusion body myopathy autosomal recessive · inclusion body myopathy type 2 · quadriceps-sparing 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GNE

  2. LiteraturePresent

    994 matched papers (546 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Rimmed vacuoles; Muscle fiber inclusion bodies; Steppage gait) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationPresent

    1 FDA · 2 EMA designations (1 FDA orphan-indication approval) — e.g. aceneuramic acid Source

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (GNE).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0011603

  • Rimmed vacuoles
  • Muscle fiber inclusion bodies
  • Steppage gait
  • Absent Achilles reflex
  • Cardiomyopathy

Showing 5 of 36 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

3

Designations · 1 with FDA orphan-indication approval

  • FDA aceneuramic acidHereditary inclusion body myopathy · 2011-09-23 · Not FDA Approved for Orphan Indication
  • EMA N-acetyl-D-mannosamine monohydrateTreatment of GNE myopathy · 21/03/2016 · PositiveEMA designation
  • EMA sialic acid (also known as aceneuramic acid)Treatment of GNE myopathy · 16/10/2015 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0011603

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

994

994 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.

994 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).

546 in the last 10 years · medium confidence · 84.1th percentile (publications denominator)

Phrase hits: 970 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,085

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Nishino I33 papers · 2025

    Department of Neuromuscular Research, National Institute of Neuroscience, National Centre of Neurology and Psychiatry (NCNP), Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Mori-Yoshimura M18 papers · 2025

    Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan. Electronic address: yoshimur@ncnp.go.jp.

    Papers in Europe PMC
  3. 03
    Noguchi S16 papers · 2025

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Oya Y13 papers · 2024

    Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Arya R12 papers · 2025

    School of Biotechnology, Jawaharlal Nehru University, New Delhi, India.

    Papers in Europe PMC
  6. 06
    Lochmüller H12 papers · 2026

    John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Aoki M9 papers · 2026

    Department of Neurology, Tohoku University School of Medicine, Sendai, Japan. Electronic address: aokim@med.tohoku.ac.jp.

    Papers in Europe PMC
  8. 08
    Huizing M9 papers · 2026

    Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.

    Papers in Europe PMC
  9. 09
    Yoshioka W9 papers · 2025

    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Argov Z8 papers · 2024

    Department of Neurology, Hadassah Medical Center, The Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 170 trials are registered for 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 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

11 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: myopathy

170

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

Observational and natural-history studies

4 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 GNE 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.

("GNE myopathy" OR "Distal myopathy with rimmed vacuoles" OR "Distal myopathy, Nonaka type" OR "HIBM2" OR "Hereditary inclusion body myopathy type 2" OR "Inclusion body myopathy type 2" OR "Nonaka myopathy" OR "Quadriceps-sparing myopathy" OR "inclusion body myopathy autosomal recessive") OR ("GNE syndrome" OR "GNE-related")

Run this search on Europe PMC

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

"GNE myopathy" OR "Distal myopathy with rimmed vacuoles" OR "Distal myopathy, Nonaka type" OR "HIBM2" OR "Hereditary inclusion body myopathy type 2" OR "Inclusion body myopathy type 2" OR "Nonaka myopathy" OR "Quadriceps-sparing myopathy" OR "inclusion body myopathy autosomal recessive"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 11 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DMRV; IBM2

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T14:31:47.260Z