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ORPHA:611

Inclusion body myositis

medium confidenceDisorder

Also known as: IBM · Sporadic inclusion body myositis · sIBM

Publications

12,380

96.6th percentile

Trials

31

Interventional, condition-specific

Researchers

1,144

Distinct authors in sample

Gene link

TARDBP

Limited

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness, starting in either the quadriceps or finger flexors and slowly progressing to include other groups of limb muscles. Distinctive histopathological features include inflammatory and degenerative features.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Sporadic Inclusion Body Myositis · inclusion body myositis · sporadic inclusion body myositis

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

    Limited — TARDBP

  2. LiteraturePresent

    12,380 matched papers (8,494 in last 10 years) Source

  3. Phenotype characterisedPresent

    74 HPO annotations (e.g. Proximal muscle weakness; Quadriceps muscle weakness; Rimmed vacuoles) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 3 EMA designations (2 FDA orphan-indication approvals) — e.g. arimoclomol Source

  6. Interventional trialPresent

    31 matched on ClinicalTrials.gov (5 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?

Possibly — only limited evidence so far for TARDBP.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

74

Associated phenotypes · MONDO:0007827

  • Proximal muscle weakness
  • Quadriceps muscle weakness
  • Rimmed vacuoles
  • Abnormal muscle fiber morphology
  • Feeding difficulties in infancy

Showing 5 of 74 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

5

Designations · 2 with FDA orphan-indication approval

  • FDA arimoclomolINCLUSION BODY MYOSITIS · 2017-11-02 · Not FDA Approved for Orphan Indication
  • FDA bimagrumabINCLUSION BODY MYOSITIS · 2012-06-18 · Not FDA Approved for Orphan Indication
  • EMA ulviprubartTreatment of inclusion body myositis · 25/07/2023 · PositiveEMA designation
  • EMA arimoclomol citrateTreatment of inclusion body myositis · 18/07/2022 · WithdrawnEMA designation
  • EMA recombinant human monoclonal antibody against activin receptor type IIBTreatment of inclusion body myositis · 09/08/2012 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

21

Drugs / clinical candidates · MONDO_0007827

CTD chemicals (MyDisease.info)

2 associated chemicals · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Prednisone · therapeutic
  • Simvastatin · marker/mechanism

Pathways: Amino sugar and nucleotide sugar metabolism; Metabolic pathways; Metabolism of proteins; Sialic acid metabolism; Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein; Asparagine N-linked glycosylation; Synthesis of substrates in N-glycan biosythesis; Post-translational protein modification

MyDisease.info · MONDO:0007827

Literature

Is anyone studying this?

12,380

12,380 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

12,380 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).

8,494 in the last 10 years · medium confidence · 96.6th percentile (publications denominator)

Phrase hits: 5,391 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,144

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
    Mammen AL8 papers · 2026

    Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Pinal-Fernandez I8 papers · 2026

    Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  3. 03
    Aoki M7 papers · 2026

    Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan. Electronic address: aokim@med.tohoku.ac.jp.

    Papers in Europe PMC
  4. 04
    Lloyd TE7 papers · 2026

    Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  5. 05
    Suzuki N7 papers · 2026

    Department of Neurology, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8574, Japan.

    Papers in Europe PMC
  6. 06
    Casal-Dominguez M6 papers · 2026

    Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Naddaf E6 papers · 2026

    Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  8. 08
    Ruck T6 papers · 2026

    Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology, Bochum, Germany.

    Papers in Europe PMC
  9. 09
    Stenzel W6 papers · 2026

    From the Department of Neurology (F.K., W.S., K.H.), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany; Department of Neurology (A.U.), Tokyo Metropolitan Neurological Hospital, Japan; Institute of Neuropathology (A.S., A.N.), Justus Liebig University, Giessen, Germany; Pediatric Neurology (A.R.), University Children's Hospital, University of Duisburg-Essen, Faculty of Medicine, Germany, and Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Germany; Departments of Rheumatology (U.S.) and Neuropathology (H.H.G.), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany; Department of Neuropathology (H.H.G.), University Medical Center, Mainz, Germany and Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany; Department of Neuropediatrics (M.S.), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany; Cand Department of Neurology with Institute for Translational Neurology (C.P.), University Hospital Münster, Münster, Germany and Department of Neuropathology (C.P., W.S.), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Germany. werner.stenzel@charite.de.

    Papers in Europe PMC
  10. 10
    Güttsches AK5 papers · 2026

    Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr University Bochum, Bochum, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

31

interventional trials for this specific condition

31 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

31 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.1th percentile).

medium confidence · 96.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

16 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.

Recruiting or not-yet-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 21 · after dedupe 21 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 21 · 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).

Uncertain / not reviewed (21)

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 Inclusion body myositis — 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.

("Inclusion body myositis" OR "Sporadic inclusion body myositis") OR ("TARDBP" OR "TARDBP syndrome" OR "TARDBP-related")

Run this search on Europe PMC

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

"Inclusion body myositis" OR "Sporadic inclusion body myositis"

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: 31 interventional · 16 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IBM; sIBM

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 2026-07-26T14:33:05.359Z