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ORPHA:90658

Charcot-Marie-Tooth disease type 1E

high confidenceDisorder

Also known as: CMT1E · Charcot-Marie-Tooth disease-deafness syndrome · Charcot-Marie-Tooth disease-hearing loss syndrome

Publications

201

70.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,198

Distinct authors in sample

Gene link

PMP22

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling with liability to pressure palsies, while others having an earlier onset with a more severe (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.

How rare: How common this is has not been clearly measured.

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 and deafness · Charcot-Marie-Tooth disease, type 1E

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

    Strong — PMP22

  2. LiteraturePresent

    201 matched papers (126 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 (PMP22).

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?

201

201 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.

201 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).

126 in the last 10 years · high confidence · 70.3th percentile (publications denominator)

Phrase hits: 201 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,198

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
    Shy ME16 papers · 2026

    Departments of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Departments of Neurology, Wayne State University, Detroit, Michigan, USA.

    Papers in Europe PMC
  2. 02
    Burns J9 papers · 2026

    Children's Hospital at Westmead and University of Sydney, Australia. Joshua.Burns@health.nsw.gov.au

    Papers in Europe PMC
  3. 03
    Li J9 papers · 2024

    Department of Neurology, Center for Human Genetic Research, Vanderbilt Brain Institute, Vanderbilt University School of Medicine, Nashville, TN, USA; Tennessee Valley Healthcare System, Nashville VA, Nashville, TN, USA. Electronic address: jun.li.2@vanderbilt.edu.

    Papers in Europe PMC
  4. 04
    Pareyson D9 papers · 2026

    Departments of Neurology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Reilly MM9 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Calero M6 papers · 2024

    Unidad de Encefalopatías Espongiformes, UFIEC, CIBERNED, Instituto de Salud Carlos III, 28029 Madrid, Spain.

    Papers in Europe PMC
  7. 07
    Choi BO6 papers · 2023

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

    Papers in Europe PMC
  8. 08
    Chung KW6 papers · 2022

    Department of Biological Science, Kongju National University, Gongju, Korea.

    Papers in Europe PMC
  9. 09
    Kun A6 papers · 2024

    Laboratorio de Biología Celular del Sistema Nervioso Periférico, Departamento de Proteínas y Ácidos Nucleicos, Instituto de Investigaciones Biológicas Clemente Estable, Montevideo 11600, Uruguay.

    Papers in Europe PMC
  10. 10
    Svaren J6 papers · 2025

    Department of Comparative Biosciences, Waisman Center, University of Wisconsin-Madison, Madison, Wisconsin 53705, USA.

    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. 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).

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

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.

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 1E" OR "CMT1E" OR "Charcot-Marie-Tooth disease-deafness syndrome" OR "Charcot-Marie-Tooth disease-hearing loss syndrome" OR "Charcot-Marie-Tooth disease and deafness" OR "Charcot-Marie-Tooth disease, type 1E"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 1E

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

"Charcot-Marie-Tooth disease type 1E" OR "CMT1E" OR "Charcot-Marie-Tooth disease-deafness syndrome" OR "Charcot-Marie-Tooth disease-hearing loss syndrome" OR "Charcot-Marie-Tooth disease and deafness" OR "Charcot-Marie-Tooth disease, type 1E" OR "PMP22"

Recall-expansion terms: PMP22

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

Ingested 2026-07-27T03:53:52.087Z