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ORPHA:52430

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

low confidenceDisorder

Also known as: IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone · Pagetoid amyotrophic lateral sclerosis · Pagetoid neuroskeletal syndrome

Publications

757

Trials

0

Interventional, condition-specific

Researchers

1,243

Distinct authors in sample

Gene link

VCP

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Inclusion body with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular ); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

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 (5)

inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia · inclusion body myopathy/Paget disease/frontotemporal dementia · limb-girdle muscular dystrophy with Paget disease of bone · pagetoid amyotrophic lateral sclerosis · pagetoid neuroskeletal syndrome

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

    Definitive — VCP

  2. LiteraturePresent

    757 matched papers (391 in last 10 years) Source

  3. Phenotype characterisedPresent

    125 HPO annotations (e.g. Skeletal muscle atrophy; Centrally nucleated skeletal muscle fibers; Elevated circulating creatine kinase activity) Source

  4. Animal modelPresent

    5 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; 102 for broader category frontotemporal dementia

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 (VCP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

125

Associated phenotypes · MONDO:0000507

  • Skeletal muscle atrophy
  • Centrally nucleated skeletal muscle fibers
  • Elevated circulating creatine kinase activity
  • Frontotemporal dementia

Showing 4 of 125 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

757

757 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.

757 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).

391 in the last 10 years · low confidence

Phrase hits: 661 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,243

Distinct author names in 200 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
    Kimonis V17 papers · 2025

    Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA. vkimonis@uci.edu.

    Papers in Europe PMC
  2. 02
    Chou TF8 papers · 2025

    Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center and The Lundquist Institute, Torrance, California 90502, U.S.A.

    Papers in Europe PMC
  3. 03
    Li S8 papers · 2024

    Division of Medical Genetics, Department of Pediatrics, Harbor-UCLA Medical Center and The Lundquist Institute, Torrance, California 90502, U.S.A.

    Papers in Europe PMC
  4. 04
    Weihl CC8 papers · 2025

    Neuromuscular Division, Washington University School of Medicine, Saint Louis, MO, USA.

    Papers in Europe PMC
  5. 05
    Wang F7 papers · 2024

    Division of Biology and Biological Engineering, California Institute of Technology, Pasadena, CA 91125, USA.

    Papers in Europe PMC
  6. 06
    Columbres RCA6 papers · 2024

    Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA, USA.

    Papers in Europe PMC
  7. 07
    Kimonis VE6 papers · 2023

    Department of Pediatrics, Division of Genetics and Genomics Medicine, University of California Irvine, Irvine, California.

    Papers in Europe PMC
  8. 08
    Hsueh YP5 papers · 2024

    Institute of Molecular Biology, Academia Sinica, 128, Academia Road, Section 2, Taipei 11529, Taiwan, Republic of China.

    Papers in Europe PMC
  9. 09
    Mozaffar T5 papers · 2025

    Neuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California.

    Papers in Europe PMC
  10. 10
    Diaz-Manera J4 papers · 2025

    The John Walton Muscular Dystrophy Research Centre, Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust, Center for Life, Central Parkway, Newcastle, Upon Tyne, 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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 102 trials are registered for frontotemporal dementia, 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.

102 interventional trials matched frontotemporal dementia, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: frontotemporal dementia

102

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

1 observational study matches 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia — 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 myopathy with Paget disease of bone and frontotemporal dementia" OR "Inclusion body myopathy with Paget disease of the bone and frontotemporal dementia" OR "IBMPFD" OR "Limb-girdle muscular dystrophy with Paget disease of bone" OR "Limb-girdle muscular dystrophy with Paget disease of the bone" OR "Pagetoid amyotrophic lateral sclerosis" OR "Pagetoid neuroskeletal syndrome" OR "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" OR "inclusion body myopathy/Paget disease/frontotemporal dementia") OR ("VCP syndrome" OR "VCP-related")

Run this search on Europe PMC

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

"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia" OR "Inclusion body myopathy with Paget disease of the bone and frontotemporal dementia" OR "IBMPFD" OR "Limb-girdle muscular dystrophy with Paget disease of bone" OR "Limb-girdle muscular dystrophy with Paget disease of the bone" OR "Pagetoid amyotrophic lateral sclerosis" OR "Pagetoid neuroskeletal syndrome" OR "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia" OR "inclusion body myopathy/Paget disease/frontotemporal dementia"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"frontotemporal dementia"

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 (757) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T00:49:54.842Z