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ORPHA:139515

Charcot-Marie-Tooth disease type 4J

low confidenceDisorder

Also known as: CMT4J

Publications

2,541

Trials

1

Interventional, condition-specific

Researchers

1,073

Distinct authors in sample

Gene link

FIG4

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FIG4

  2. LiteraturePresent

    2,541 matched papers (1,606 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Motor delay; Hyporeflexia; Gait disturbance) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

14

Associated phenotypes · MONDO:0012640

  • Motor delay
  • Hyporeflexia
  • Gait disturbance
  • Areflexia
  • Decreased nerve conduction velocity

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

2,541

2,541 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.

2,541 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).

1,606 in the last 10 years · low confidence

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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

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 Charcot-Marie-Tooth disease type 4J — 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.

("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 (MESH:"Charcot-Marie-Tooth Disease, Type 4j") OR ("FIG4" OR "FIG4 syndrome" OR "FIG4-related")

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"

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; 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 (2541) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

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