RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:101078

X-linked Charcot-Marie-Tooth disease type 4

low confidenceDisorder

Also known as: CMT4X · CMTX4 · Cowchock syndrome

Publications

2,478

Trials

0

Interventional, condition-specific

Researchers

1,057

Distinct authors in sample

Gene link

AIFM1

Strong

Readiness

4/6

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.”

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 — AIFM1

  2. LiteraturePresent

    2,478 matched papers (1,613 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Sensory axonal neuropathy; Distal lower limb muscle weakness; Sensorineural hearing impairment) 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 (AIFM1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0010689

  • Sensory axonal neuropathy
  • Distal lower limb muscle weakness
  • Sensorineural hearing impairment
  • Ataxia
  • Tremor

Showing 5 of 30 — 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?

2,478

2,478 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.

2,478 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).

1,613 in the last 10 years · low confidence

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 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 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 X-linked Charcot-Marie-Tooth disease type 4 — 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.

("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 "AIFM1 syndrome" OR "AIFM1-related")

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"

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

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 (2478) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:16:34.024Z