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ORPHA:352675

X-linked Charcot-Marie-Tooth disease type 6

high confidenceDisorder

Also known as: CMT6X · CMTX6

Publications

39

43.8th percentile

Trials

0

Interventional, condition-specific

Researchers

287

Distinct authors in sample

Gene link

PDK3

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A type of rare X-linked Charcot-Marie-Tooth disease characterized by slowly , principally axonal, peripheral sensorimotor . Patients present with distal muscle weakness and atrophy of the lower extremities, as well as distal, panmodal sensory abnormalities, bilateral foot deformities (pes cavus and clawed toes), absent ankle reflexes, gait abnormalities (steppage gait, decreased hand grip strength and dexterity with variable severity. Males are typically more severely affected than carrier females (some reported to remain asymptomatic) and usually present with an earlier age of onset (within the first 13 years of life).

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 (3)

Charcot-Marie-Tooth disease X-linked dominant type 6 · Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant · Charcot-Marie-Tooth disease, X-linked dominant, type 6

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 identifiedPresent

    Definitive — PDK3

  2. LiteraturePresent

    39 matched papers (30 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (PDK3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

39

39 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=5449) is 41.

39 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)

Phrase hits: 39 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

287

Distinct author names in 39 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
    Kennerson ML9 papers · 2026

    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

    Papers in Europe PMC
  2. 02
    Perez-Siles G6 papers · 2026

    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.

    Papers in Europe PMC
  3. 03
    Ellis M4 papers · 2026

    Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia.

    Papers in Europe PMC
  4. 04
    Choi BO3 papers · 2020

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

    Papers in Europe PMC
  5. 05
    Ly C3 papers · 2021

    Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia.

    Papers in Europe PMC
  6. 06
    Nicholson GA3 papers · 2021

    Northcott Neuroscience Laboratory, ANZAC Research Institute, University of Sydney, Concord, NSW, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.

    Papers in Europe PMC
  7. 07
    Ryan MM3 papers · 2020

    Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, VIC, Australia; Neuroscience Research, Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, VIC, Australia.

    Papers in Europe PMC
  8. 08
    Yiu EM3 papers · 2020

    Department of Neurology, Royal Children's Hospital, Flemington Road, Parkville, VIC, Australia; Neuroscience Research, Murdoch Childrens Research Institute, Melbourne, VIC, Australia; Department of Pediatrics, The University of Melbourne, VIC, Australia.

    Papers in Europe PMC
  9. 09
    Chuang DT2 papers · 2016

    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas, TX, USA.

    Papers in Europe PMC
  10. 10
    Chung KW2 papers · 2016

    Department of Biological Sciences, Kongju National University, Gongju, Korea.

    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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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.

"X-linked Charcot-Marie-Tooth disease type 6" OR "CMT6X" OR "CMTX6" OR "Charcot-Marie-Tooth disease X-linked dominant type 6" OR "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" OR "Charcot-Marie-Tooth disease, X-linked dominant, type 6"

Run this search on Europe PMC

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

"X-linked Charcot-Marie-Tooth disease type 6" OR "CMT6X" OR "CMTX6" OR "Charcot-Marie-Tooth disease X-linked dominant type 6" OR "Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant" OR "Charcot-Marie-Tooth disease, X-linked dominant, type 6" OR "PDK3" OR "Charcot-Marie-Tooth disease type X"

Recall-expansion terms: PDK3, Charcot-Marie-Tooth disease type X

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, recall-expansion; with hits: phrase, recall-expansion

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 2026-07-27T14:16:55.873Z