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ORPHA:101084

Charcot-Marie-Tooth disease type 1D

high confidenceDisorder

Also known as: CMT1D

Publications

80

50.8th percentile

Trials

1

Interventional, condition-specific

Researchers

448

Distinct authors in sample

Gene link

EGR2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2 · Charcot-Marie-Tooth disease, type 1D · EGR2 Charcot-Marie-Tooth disease type 1 · HMSN1D · hereditary motor and sensory neuropathy 1D

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 — EGR2

  2. LiteraturePresent

    80 matched papers (43 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: 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?

80

80 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.

80 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).

43 in the last 10 years · high confidence · 50.8th percentile (publications denominator)

Phrase hits: 80 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

448

Distinct author names in 80 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 ME9 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Timmerman V5 papers · 2024

    Peripheral Neuropathy Research Group, Department of Biomedical Sciences, University of Antwerp, 2610, Antwerp, Belgium. vincent.timmerman@uantwerpen.be.

    Papers in Europe PMC
  3. 03
    Burns J4 papers · 2025

    Departments of Neurology, University of Sydney & Children's Hospital, Sydney, Australia.

    Papers in Europe PMC
  4. 04
    De Jonghe P4 papers · 2008

    Department of Biochemistry, University Hospital Antwerp, Belgium. dejonghe@uia.ua.ac.be

    Papers in Europe PMC
  5. 05
    Reilly MM4 papers · 2018

    Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, Queen Square, UK. m.reilly@ion.ucl.ac.uk

    Papers in Europe PMC
  6. 06
    Scherer SS4 papers · 2024

    The University of Pennsylvania Medical School, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  7. 07
    Herrmann DN3 papers · 2018

    Departments of Neurology, University of Rochester, Rochester, New York, USA.

    Papers in Europe PMC
  8. 08
    Moss KR3 papers · 2025

    Department of Neurology, Neuromuscular Division, Johns Hopkins School of Medicine, Baltimore, MD, United States.

    Papers in Europe PMC
  9. 09
    Saporta MA3 papers · 2021

    Department of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.

    Papers in Europe PMC
  10. 10
    Shy R3 papers · 2025

    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

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 1D" OR "CMT1D" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" OR "Charcot-Marie-Tooth disease, type 1D" OR "EGR2 Charcot-Marie-Tooth disease type 1" OR "HMSN1D" OR "hereditary motor and sensory neuropathy 1D"

Run this search on Europe PMC

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

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

"Charcot-Marie-Tooth disease type 1D" OR "CMT1D" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2" OR "Charcot-Marie-Tooth disease, type 1D" OR "EGR2 Charcot-Marie-Tooth disease type 1" OR "HMSN1D" OR "hereditary motor and sensory neuropathy 1D" 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 2026-07-27T07:17:39.052Z