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ORPHA:139515

Charcot-Marie-Tooth disease type 4J

medium confidenceDisorder

Also known as: CMT4J

Publications

256

73.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,073

Distinct authors in sample

Gene link

FIG4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly , demyelinating with axonal loss sensorimotor typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. Nerve conduction velocities range from very mildly to severely reduced.

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 (2)

Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4 · FIG4 Charcot-Marie-Tooth disease type 4

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FIG4

  2. LiteraturePresent

    256 matched papers (147 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (FIG4).

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?

256

256 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.

256 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).

147 in the last 10 years · medium confidence · 73.5th percentile (publications denominator)

Phrase hits: 256 · MeSH hits: 4

Open Europe PMC search

Who's working on it?

1,073

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Meisler MH22 papers · 2026

    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. Electronic address: meislerm@umich.edu.

    Papers in Europe PMC
  2. 02
    Lenk GM19 papers · 2026

    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  3. 03
    Li J16 papers · 2024

    Department of Neurology, Center for Molecular Neuroscience, Center for Human Genetics Research, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA. Jun.li.2@vanderbilt.edu

    Papers in Europe PMC
  4. 04
    Weisman LS11 papers · 2022

    Neuroscience Graduate Program, Life Sciences Institute, and Departments of Cell and Developmental Biology and lweisman@umich.edu masutton@umich.edu.

    Papers in Europe PMC
  5. 05
    Shy ME9 papers · 2025

    Carver College of Medicine, Department of Neurology, University of Iowa, Iowa City, IA.

    Papers in Europe PMC
  6. 06
    Ferguson CJ7 papers · 2026

    Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  7. 07
    Reilly MM6 papers · 2024

    MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.

    Papers in Europe PMC
  8. 08
    Falzone YM5 papers · 2024

    Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Institute for Experimental Neurology, Inspe, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Previtali SC5 papers · 2024

    Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Institute for Experimental Neurology, Inspe, Milan, Italy. previtali.stefano@hsr.it.

    Papers in Europe PMC
  10. 10
    Zhang Y5 papers · 2023

    Life Sciences Institute, and.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 41 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

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: Charcot-Marie-Tooth disease

41

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.

"Charcot-Marie-Tooth disease type 4J" OR "CMT4J" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" OR "FIG4 Charcot-Marie-Tooth disease type 4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Disease, Type 4j

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

"Charcot-Marie-Tooth disease type 4J" OR "CMT4J" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4" OR "FIG4 Charcot-Marie-Tooth disease type 4" OR "Charcot-Marie-Tooth Disease, Type 4j" OR "FIG4"

Recall-expansion terms: FIG4

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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, mesh, recall-expansion; with hits: phrase, mesh

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 (256) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:39:19.865Z