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ORPHA:101075

X-linked Charcot-Marie-Tooth disease type 1

medium confidenceDisorder

Also known as: CMT1X · CMTX1

Publications

591

86.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,041

Distinct authors in sample

Gene link

GJB1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic peripheral sensorimotor characterized by an X-linked inheritance pattern and adolescence onset in males of , distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported.

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 (18)

CMT2 · CMT2, formerly · CMTX · CMTX 1 · Charcot Marie Tooth disease X-linked 1 · Charcot-Marie-Tooth disease X-linked dominant 1 · Charcot-Marie-Tooth disease X-linked dominant type 1 · Charcot-Marie-Tooth disease type X caused by mutation in GJB1 · Charcot-Marie-Tooth disease, X-linked dominant, 1 · Charcot-Marie-Tooth disease, X-linked dominant, type 1 · Charcot-Marie-Tooth disease, X-linked, 1 · Charcot-Marie-Tooth neuropathy X type 1 · Charcot-Marie-Tooth neuropathy, X-linked, 1 · Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined · Charcot-Marie-Tooth peroneal muscular atrophy, X-linked · GJB1 Charcot-Marie-Tooth disease type X · HMSN, X-linked · hereditary motor and sensory neuropathy, X-linked

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — GJB1

  2. LiteraturePresent

    591 matched papers (355 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 trialPartial

    None under the specific name; 42 for broader category Charcot-Marie-Tooth disease

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 (GJB1).

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?

591

591 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=5449) is 41.

591 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).

355 in the last 10 years · medium confidence · 86.9th percentile (publications denominator)

Phrase hits: 591 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,041

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Reilly MM14 papers · 2025

    From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norfolk, UK. m.reilly@ucl.ac.uk.

    Papers in Europe PMC
  2. 02
    Kleopa KA12 papers · 2026

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus.

    Papers in Europe PMC
  3. 03
    Rossor AM10 papers · 2024

    From the MRC Centre for Neuromuscular Diseases (P.J.T., A.M.R., A.H., A.C., M.L., M.M.R.), Department of Neuropathology (Z.J.), and Department of Neurogenetics (R.P., J.P., H.H.), National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK; Clinic of Central and Peripheral Degenerative Neuropathies Unit (P.S., G.P., D.P.), Department of Clinical Neurosciences, IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy; Department of Clinical Neurophysiology (J.C.B.), Norfolk and Norwich University Hospital, Norfolk, UK.

    Papers in Europe PMC
  4. 04
    Shy ME10 papers · 2025

    Department of Neurology, Carver College of Medicine, University of Iowa, 200 Hawkins Drive, Iowa City, IA, 52242-1009, USA.

    Papers in Europe PMC
  5. 05
    Kagiava A9 papers · 2026

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus.

    Papers in Europe PMC
  6. 06
    Wang Y9 papers · 2026

    Department of Pediatrics, Xiangya Hospital of Central South University, Changsha, Hunan, China.

    Papers in Europe PMC
  7. 07
    Pareyson D8 papers · 2025

    Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Sargiannidou I8 papers · 2025

    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Cyprus School of Molecular Medicine, 1683 Nicosia, Cyprus.

    Papers in Europe PMC
  9. 09
    Takashima H8 papers · 2025

    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima 890-8544, Japan.

    Papers in Europe PMC
  10. 10
    Abrams CK7 papers · 2025

    Department of Neurology and Rehabilitation, University of Illinois at Chicago, Chicago, IL, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

42 interventional trials matched Charcot-Marie-Tooth disease, the broader category — listed below. Those studies are not counted in the condition-specific total.

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

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.

"X-linked Charcot-Marie-Tooth disease type 1" OR "CMT1X" OR "CMTX1" OR "CMT2, formerly" OR "CMTX 1" OR "Charcot Marie Tooth disease X-linked 1" OR "Charcot-Marie-Tooth disease X-linked dominant 1" OR "Charcot-Marie-Tooth disease X-linked dominant type 1" OR "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" OR "Charcot-Marie-Tooth disease, X-linked dominant, 1" OR "Charcot-Marie-Tooth disease, X-linked dominant, type 1" OR "Charcot-Marie-Tooth disease, X-linked, 1" OR "Charcot-Marie-Tooth neuropathy X type 1" OR "Charcot-Marie-Tooth neuropathy, X-linked, 1" OR "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" OR "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" OR "GJB1 Charcot-Marie-Tooth disease type X" OR "HMSN, X-linked" OR "hereditary motor and sensory neuropathy, X-linked"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined

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

"X-linked Charcot-Marie-Tooth disease type 1" OR "CMT1X" OR "CMTX1" OR "CMT2, formerly" OR "CMTX 1" OR "Charcot Marie Tooth disease X-linked 1" OR "Charcot-Marie-Tooth disease X-linked dominant 1" OR "Charcot-Marie-Tooth disease X-linked dominant type 1" OR "Charcot-Marie-Tooth disease type X caused by mutation in GJB1" OR "Charcot-Marie-Tooth disease, X-linked dominant, 1" OR "Charcot-Marie-Tooth disease, X-linked dominant, type 1" OR "Charcot-Marie-Tooth disease, X-linked, 1" OR "Charcot-Marie-Tooth neuropathy X type 1" OR "Charcot-Marie-Tooth neuropathy, X-linked, 1" OR "Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined" OR "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" OR "GJB1 Charcot-Marie-Tooth disease type X" OR "HMSN, X-linked" OR "hereditary motor and sensory neuropathy, X-linked" OR "GJB1" OR "Charcot-Marie-Tooth disease type X"

Recall-expansion terms: GJB1, Charcot-Marie-Tooth disease type X

Study-type breakdown: 0 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, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CMT2; CMTX

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:15:59.453Z