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ORPHA:284232

Autosomal dominant Charcot-Marie-Tooth disease type 2O

low confidenceDisorder

Also known as: CMT2O

Publications

1,829

Trials

0

Interventional, condition-specific

Researchers

414

Distinct authors in sample

Gene link

DYNC1H1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, subtype of Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly , predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

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 (4)

Charcot-Marie-Tooth disease caused by mutation in DYNC1H1 · Charcot-Marie-Tooth disease, axonal, type 20 · DYNC1H1 Charcot-Marie-Tooth disease · autosomal dominant Charcot-Marie-Tooth disease type 2O

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

    Strong — DYNC1H1

  2. LiteraturePresent

    1,829 matched papers (1,424 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Talipes; Motor delay; Difficulty running) Source

  4. Animal modelPresent

    1 genotype model (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; 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 (DYNC1H1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0013644

  • Talipes
  • Motor delay
  • Difficulty running
  • Peripheral neuropathy
  • Distal sensory impairment

Showing 5 of 12 — 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)

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?

1,829

1,829 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.

1,829 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).

1,424 in the last 10 years · low confidence

Phrase hits: 58 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

414

Distinct author names in 58 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
    Timmerman V3 papers · 2022

    Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, Antwerpen, Belgium.

    Papers in Europe PMC
  2. 02
    Beggs AH2 papers · 2025

    Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02445, USA.

    Papers in Europe PMC
  3. 03
    Falzone YM2 papers · 2021

    Experimental Neuropathology Unit, Division of Neuroscience, Institute of Experimental Neurology - San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  4. 04
    King LE2 papers · 2019

    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL, 32827, USA.

    Papers in Europe PMC
  5. 05
    King SJ2 papers · 2019

    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL, 32827, USA. Stephen.king@ucf.edu.

    Papers in Europe PMC
  6. 06
    Love R2 papers · 2019

    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL, 32827, USA.

    Papers in Europe PMC
  7. 07
    Nandini S2 papers · 2019

    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL, 32827, USA.

    Papers in Europe PMC
  8. 08
    Sabblah TT2 papers · 2019

    Burnett School of Biomedical Sciences, College of Medicine, University of Central Florida, Orlando, FL, 32827, USA.

    Papers in Europe PMC
  9. 09
    Saporta MA2 papers · 2019

    Department of Neurology, Leonard M. Miller School of Medicine, University of Miami, Miami, Florida, USA.

    Papers in Europe PMC
  10. 10
    Striano P2 papers · 2025

    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.

    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). 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.

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.

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

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 13 · after dedupe 13 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 13 · 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).

Uncertain / not reviewed (13)

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 2O — 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 2O" OR "CMT2O" OR "Charcot-Marie-Tooth disease, axonal, type 20" OR "DYNC1H1 Charcot-Marie-Tooth disease") OR ("DYNC1H1" OR "DYNC1H1 syndrome" OR "DYNC1H1-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 2O" OR "CMT2O" OR "Charcot-Marie-Tooth disease, axonal, type 20" OR "DYNC1H1 Charcot-Marie-Tooth disease"

Study-type breakdown: 0 interventional · 0 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

Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in DYNC1H1

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 (1829) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:01:37.709Z