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ORPHA:99951

Charcot-Marie-Tooth disease type 4E

high confidenceDisorder

Also known as: Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Publications

49

32.9th percentile

Trials

1

Interventional, condition-specific

Researchers

276

Distinct authors in sample

Gene link

EGR2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of , hypomyelinating Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like (incl. and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT , i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and foot deformity.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

Neuropathy, Congenital Hypomyelination · autosomal recessive congenital hypomyelinating neuropathy · hypomyelinating neuropathy, congenital, 1

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 — EGR2

  2. LiteraturePresent

    49 matched papers (15 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

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 (EGR2).

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?

49

49 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.

49 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).

15 in the last 10 years · high confidence · 32.9th percentile (publications denominator)

Phrase hits: 49 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

276

Distinct author names in 49 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
    Chouery E3 papers · 2007
    Papers in Europe PMC
  2. 02
    Chrast R3 papers · 2012
    Papers in Europe PMC
  3. 03
    Delague V3 papers · 2007

    INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France. valerie.delague@medecine.univ-mrs.fr

    Papers in Europe PMC
  4. 04
    Mégarbané A3 papers · 2007
    Papers in Europe PMC
  5. 05
    Shy ME3 papers · 2019

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

    Papers in Europe PMC
  6. 06
    Boccaccio I2 papers · 2007
    Papers in Europe PMC
  7. 07
    Casasnovas C2 papers · 2009
    Papers in Europe PMC
  8. 08
    Chaouch M2 papers · 2007
    Papers in Europe PMC
  9. 09
    Choi BO2 papers · 2016

    Stem Cell & Regenerative Medicine Center and Neuroscience Center, Samsung Medical Center, Seoul 06351, Korea.

    Papers in Europe PMC
  10. 10
    Grid D2 papers · 2007
    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; none in our sample are currently recruiting. 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

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).

high 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

2 observational studies match 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.

Recruiting or not-yet-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 4E" OR "Autosomal recessive congenital hypomyelinating neuropathy" OR "CMT4E" OR "Neuropathy, Congenital Hypomyelination" OR "hypomyelinating neuropathy, congenital, 1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 4E

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

"Charcot-Marie-Tooth disease type 4E" OR "Autosomal recessive congenital hypomyelinating neuropathy" OR "CMT4E" OR "Neuropathy, Congenital Hypomyelination" OR "hypomyelinating neuropathy, congenital, 1" OR "Charcot-Marie-Tooth disease, Type 4E" OR "EGR2"

Recall-expansion terms: EGR2

Interventional trials matched via: recall-expansion (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 · 2 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, 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 2026-07-27T06:45:41.922Z