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ORPHA:101078

X-linked Charcot-Marie-Tooth disease type 4

high confidenceDisorder

Also known as: CMT4X · CMTX4 · Cowchock syndrome

Publications

112

62.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

AIFM1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic, axonal, peripheral sensorimotor , characterized by an X-linked inheritance pattern and the - to early childhood-onset of severe, slowly , distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the .

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 (11)

CMTX 4 · COWCK · Charcot-Marie-Tooth disease X-linked recessive type 4 · Charcot-Marie-Tooth disease with deafness and intellectual disability · Charcot-Marie-Tooth disease with deafness and mental retardation · Charcot-Marie-Tooth disease, X-linked recessive, 4 · Cowchock syndrome, X-linked recessive · NADMR · NAMSD · axonal motor sensory neuropathy with deafness and intellectual disability · cowchock 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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — AIFM1

  2. LiteraturePresent

    112 matched papers (80 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 (AIFM1).

GenCC classification: Strong.

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?

112

112 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.

112 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).

80 in the last 10 years · high confidence · 62.7th percentile (publications denominator)

Phrase hits: 112 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,057

Distinct author names in 112 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
    Wang Q7 papers · 2025

    Department of Ophthalmology, Wuxi No. 2 People's Hospital Affiliated Nanjing Medical University Wuxi 214002, China.

    Papers in Europe PMC
  2. 02
    Wang H5 papers · 2025

    Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China. whyx301@foxmail.com.

    Papers in Europe PMC
  3. 03
    Ghezzi D4 papers · 2023

    From the Foundation Institute of Neurology "Carlo Besta," Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy. dghezzi@istituto-besta.it davide.pareyson@istituto-besta.it.

    Papers in Europe PMC
  4. 04
    Guan J4 papers · 2026

    Department of Audiology and Vestibular Medicine, Senior Department of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology the Sixth Medical Center of Chinese PLA General Hospital Beijing China.

    Papers in Europe PMC
  5. 05
    Lan L4 papers · 2026

    Department of Otolaryngology, Head and Neck Surgery the First Medical Center of Chinese PLA General Hospital Beijing China.

    Papers in Europe PMC
  6. 06
    Li J4 papers · 2025

    Senior Department of Otolaryngology Head and Neck Surgery, The 6th Medical Center of Chinese PLA General Hospital, Chinese PLA Medical School, Beijing, 100048, China.

    Papers in Europe PMC
  7. 07
    Wang D4 papers · 2024

    Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Antonellis A3 papers · 2015

    Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.

    Papers in Europe PMC
  9. 09
    Bano D3 papers · 2022

    German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

    Papers in Europe PMC
  10. 10
    Ferreira P3 papers · 2026

    Departamento de Bioquímica y Biología Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Spain.

    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 4" OR "CMT4X" OR "CMTX4" OR "Cowchock syndrome" OR "CMTX 4" OR "COWCK" OR "Charcot-Marie-Tooth disease X-linked recessive type 4" OR "Charcot-Marie-Tooth disease with deafness and intellectual disability" OR "Charcot-Marie-Tooth disease with deafness and mental retardation" OR "Charcot-Marie-Tooth disease, X-linked recessive, 4" OR "Cowchock syndrome, X-linked recessive" OR "NADMR" OR "NAMSD" OR "axonal motor sensory neuropathy with deafness and intellectual disability"

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 4" OR "CMT4X" OR "CMTX4" OR "Cowchock syndrome" OR "CMTX 4" OR "COWCK" OR "Charcot-Marie-Tooth disease X-linked recessive type 4" OR "Charcot-Marie-Tooth disease with deafness and intellectual disability" OR "Charcot-Marie-Tooth disease with deafness and mental retardation" OR "Charcot-Marie-Tooth disease, X-linked recessive, 4" OR "Cowchock syndrome, X-linked recessive" OR "NADMR" OR "NAMSD" OR "axonal motor sensory neuropathy with deafness and intellectual disability" OR "AIFM1" OR "Charcot-Marie-Tooth disease type X"

Recall-expansion terms: AIFM1, 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 2026-07-27T07:16:34.024Z