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ORPHA:79091

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

low confidenceDisorder

Also known as: HIBM3 · Hereditary inclusion body myopathy type 3 · IBM3 · Inclusion body myopathy type 3

Publications

2,702

Trials

0

Interventional, condition-specific

Researchers

96

Distinct authors in sample

Gene link

MYH2

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. , respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly . Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue.

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 (2)

hereditary inclusion body myopathy type 3 · inclusion body 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.

  1. Gene identifiedPresent

    Limited — MYH2

  2. LiteraturePresent

    2,702 matched papers (2,101 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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; 11 for broader category hereditary inclusion-body 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 MYH2.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

2,702

2,702 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.

2,702 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).

2,101 in the last 10 years · low confidence

Phrase hits: 17 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

96

Distinct author names in 17 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
    Barohn RJ2 papers · 2014

    Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA.

    Papers in Europe PMC
  2. 02
    Bernstein SI2 papers · 2017

    Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA swankd@rpi.edu sbernstein@mail.sdsu.edu.

    Papers in Europe PMC
  3. 03
    Gang Q2 papers · 2014

    Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. q.gang@ucl.ac.uk.

    Papers in Europe PMC
  4. 04
    Hanna MG2 papers · 2014
    Papers in Europe PMC
  5. 05
    Houlden H2 papers · 2014
    Papers in Europe PMC
  6. 06
    Li X2 papers · 2012
    Papers in Europe PMC
  7. 07
    Lu Y2 papers · 2018

    Department of Neurology, Capital Medical University, Xuan Wu Hospital, Beijing, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Melkani A2 papers · 2017

    Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA.

    Papers in Europe PMC
  9. 09
    Melkani GC2 papers · 2017

    Department of Biology and Molecular Biology Institute, San Diego State University, San Diego, CA 92182-4614, USA.

    Papers in Europe PMC
  10. 10
    Ramdharry G2 papers · 2021

    National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, United Kingdom.

    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). 11 trials are registered for hereditary inclusion-body 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.

11 interventional trials matched hereditary inclusion-body myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hereditary inclusion-body myopathy

11

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.

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 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome — 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.

("Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" OR "HIBM3" OR "Hereditary inclusion body myopathy type 3" OR "Inclusion body myopathy type 3") OR ("MYH2" OR "MYH2 syndrome" OR "MYH2-related")

Run this search on Europe PMC

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

"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" OR "HIBM3" OR "Hereditary inclusion body myopathy type 3" OR "Inclusion body myopathy type 3"

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

Parent-category trials query:

"hereditary inclusion-body myopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IBM3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2702) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T01:55:34.033Z