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ORPHA:435387

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

medium confidenceDisorder

Also known as: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation · CMT2 due to VCP mutation · CMT2Y

Publications

216

66.1th percentile

Trials

0

Interventional, condition-specific

Researchers

307

Distinct authors in sample

Gene link

VCP

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, axonal motor and sensory characterized by distal muscle weakness and atrophy of variable onset and severity. Patients present with postural instability, gait and running difficulties, decreased deep tendon reflexes, foot deformities, fine motor impairment, and distal sensory impairment. Dysarthria, dysphagia, and mild cognitive and behavioral abnormalities have also been reported.

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)

Charcot-Marie-Tooth disease type 2 caused by mutation in VCP · Charcot-Marie-Tooth disease, axonal, type 2y · Charcot-Marie-Tooth disease, type 2Y · VCP Charcot-Marie-Tooth disease type 2 · autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — VCP

  2. LiteraturePresent

    216 matched papers (177 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Elevated circulating creatine kinase activity; Decreased motor nerve conduction velocity; Absent Achilles reflex) Source

  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; 42 for broader category Charcot-Marie-Tooth disease

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: Strong.

Phenotypes (Monarch / HPO)

55

Associated phenotypes · MONDO:0014735

  • Elevated circulating creatine kinase activity
  • Decreased motor nerve conduction velocity
  • Absent Achilles reflex
  • Hammertoe
  • Pes cavus

Showing 5 of 55 — open Monarch for the full list.

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?

216

216 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

216 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).

177 in the last 10 years · medium confidence · 66.1th percentile (publications denominator)

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

307

Distinct author names in 52 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
    Pfeffer G3 papers · 2024

    Hotchkiss Brain Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.

    Papers in Europe PMC
  2. 02
    Chia R2 papers · 2023

    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. Electronic address: ruth.chia@nih.gov.

    Papers in Europe PMC
  3. 03
    Chiò A2 papers · 2023

    Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin, Italy; Città della Salute e della Scienza University Hospital, Turin, Italy.

    Papers in Europe PMC
  4. 04
    Fanganiello RD2 papers · 2024

    Faculty of Science and Engineering, Université Laval, Quebec City, QC G1V 0A6, Canada.

    Papers in Europe PMC
  5. 05
    Kimonis V2 papers · 2022

    Department of Pediatrics, University of California - Irvine School of Medicine, Orange, CA, USA.

    Papers in Europe PMC
  6. 06
    Kirby J2 papers · 2020

    Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience, University of Sheffield, Sheffield, UK, j.kirby@sheffield.ac.uk.

    Papers in Europe PMC
  7. 07
    Kumar M2 papers · 2024

    Structural and Computational Biology Unit, European Molecular Biology Laboratory, Heidelberg 69117, Germany.

    Papers in Europe PMC
  8. 08
    Peck A2 papers · 2022

    Cure VCP Disease, Americus, GA, USA.

    Papers in Europe PMC
  9. 09
    Pontifex CS2 papers · 2024

    Hotchkiss Brain Institute, Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.

    Papers in Europe PMC
  10. 10
    Tang WK2 papers · 2017

    Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, National Institutes of HealthBethesda, MD, United States.

    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. 42 trials are registered for Charcot-Marie-Tooth disease, 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.

medium 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.

42 interventional trials matched Charcot-Marie-Tooth disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: Charcot-Marie-Tooth disease

42

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.

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 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 Autosomal dominant Charcot-Marie-Tooth disease type 2Y — 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.

("Autosomal dominant Charcot-Marie-Tooth disease type 2Y" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" OR "CMT2 due to VCP mutation" OR "CMT2Y" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" OR "Charcot-Marie-Tooth disease, axonal, type 2y" OR "Charcot-Marie-Tooth disease, type 2Y" OR "VCP Charcot-Marie-Tooth disease type 2") 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):

"Autosomal dominant Charcot-Marie-Tooth disease type 2Y" OR "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" OR "CMT2 due to VCP mutation" OR "CMT2Y" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in VCP" OR "Charcot-Marie-Tooth disease, axonal, type 2y" OR "Charcot-Marie-Tooth disease, type 2Y" OR "VCP Charcot-Marie-Tooth disease type 2"

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

Parent-category trials query:

"Charcot-Marie-Tooth disease"

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 (216) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T16:01:19.436Z