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ORPHA:99944

Autosomal dominant Charcot-Marie-Tooth disease type 2K

high confidenceDisorder

Also known as: CMT2K

Publications

131

56th percentile

Trials

0

Interventional, condition-specific

Researchers

712

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

An axonal Charcot-Marie-Tooth (CMT) peripheral sensorimotor polyneuropathy.

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 (1)

Charcot-Marie-Tooth disease type 2K

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    131 matched papers (92 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Distal muscle weakness; Distal sensory impairment; Proximal muscle weakness) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0020558

  • Distal muscle weakness
  • Distal sensory impairment
  • Proximal muscle weakness
  • Gait disturbance
  • Hand muscle atrophy

Showing 5 of 10 — 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?

131

131 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.

131 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).

92 in the last 10 years · high confidence · 56th percentile (publications denominator)

Phrase hits: 131 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

712

Distinct author names in 131 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
    Palau F11 papers · 2026

    Program in Rare and Genetic Diseases and IBV/CSIC Associated Unit, Centro de Investigación Príncipe Felipe, Valencia, Spain; CIBER de Enfermedades Raras (CIBERER), ISCIII, Valencia and Madrid, Spain; University of Castilla-La Mancha School of Medicine at Ciudad Real, Ciudad Real, Spain.

    Papers in Europe PMC
  2. 02
    Shy ME7 papers · 2024

    Departments of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Departments of Neurology, Wayne State University, Detroit, Michigan, USA.

    Papers in Europe PMC
  3. 03
    Espinós C5 papers · 2020

    Program in Molecular Mechanisms of Disease, Centro de Investigación Príncipe Felipe (CIPF), c/ Eduardo Primo Yúfera no. 3, 46012 Valencia, Spain.

    Papers in Europe PMC
  4. 04
    Kursula P5 papers · 2026

    Faculty of Biochemistry and Molecular Medicine & Biocenter Oulu, University of Oulu, Oulu, Finland.

    Papers in Europe PMC
  5. 05
    Xie Y5 papers · 2024

    Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.

    Papers in Europe PMC
  6. 06
    Bonneau D4 papers · 2020

    MitoLab, UMR CNRS 6015-INSERM 1083, MitoVasc Institute, University of Angers, Angers, France; University Hospital of Angers, Department of Biochemistry and Genetics, F-49100 Angers, France.

    Papers in Europe PMC
  7. 07
    Cassereau J4 papers · 2020

    UMR INSERM, U771-CNRS6214, F-49933 Angers, France.

    Papers in Europe PMC
  8. 08
    Chevrollier A4 papers · 2020

    MitoLab, UMR CNRS 6015-INSERM 1083, MitoVasc Institute, University of Angers, Angers, France.

    Papers in Europe PMC
  9. 09
    Liu L4 papers · 2024

    Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China.

    Papers in Europe PMC
  10. 10
    Moroni I4 papers · 2024

    Departments of Neurology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, 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. 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.

high 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 2K — 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 2K" OR "CMT2K" OR "Charcot-Marie-Tooth disease type 2K"

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 2K" OR "CMT2K" OR "Charcot-Marie-Tooth disease type 2K"

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

Ingested 2026-07-27T06:44:06.472Z