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ORPHA:99943

Autosomal dominant Charcot-Marie-Tooth disease type 2J

high confidenceDisorder

Also known as: CMT2J

Publications

56

44.7th percentile

Trials

0

Interventional, condition-specific

Researchers

390

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor , characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Charcot-Marie-Tooth disease, type 2J

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    56 matched papers (39 in last 10 years) Source

  3. Phenotype characterisedPresent

    15 HPO annotations (e.g. Hyporeflexia; Dysphagia; Distal muscle weakness) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

15

Associated phenotypes · MONDO:0011903

  • Hyporeflexia
  • Dysphagia
  • Distal muscle weakness
  • Progressive sensorineural hearing impairment
  • Slow pupillary light response

Showing 5 of 15 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

56

56 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=3967) is 59.

56 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).

39 in the last 10 years · high confidence · 44.7th percentile (publications denominator)

Phrase hits: 56 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

390

Distinct author names in 56 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
    Shy ME7 papers · 2025

    Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, 52242, USA.

    Papers in Europe PMC
  2. 02
    Grandis M6 papers · 2024

    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.

    Papers in Europe PMC
  3. 03
    Schenone A6 papers · 2024

    Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, IRCCS AOU San Martino-IST, 16132 Genova, Italy.

    Papers in Europe PMC
  4. 04
    Cavallaro T5 papers · 2024

    Dipartimento di Neuroscienze, Biomedicina e Movimento, Università di Verona, 37126, Verona, Italy.

    Papers in Europe PMC
  5. 05
    D'Antonio M5 papers · 2025

    Division of Genetics and Cell Biology, San Raffaele Scientific Institute DIBIT, 20132, Milan, Italy. dantonio.maurizio@hsr.it.

    Papers in Europe PMC
  6. 06
    Fabrizi GM5 papers · 2024

    Dipartimento di Neuroscienze, Biomedicina e Movimento, Università di Verona, 37126, Verona, Italy.

    Papers in Europe PMC
  7. 07
    Ferri C5 papers · 2025

    Division of Genetics and Cell Biology, San Raffaele Scientific Institute DIBIT, 20132, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Previtali SC5 papers · 2024

    INSPE and Division of Neuroscience, IRCCS Ospedale San Raffaele, 20132, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Rossor AM5 papers · 2024

    MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London WC1N 3BG, United Kingdom.

    Papers in Europe PMC
  10. 10
    Bertini A4 papers · 2024

    Unità di Malattie Neurodegenerative e Metaboliche Rare, Dipartimento di Neuroscienze Cliniche, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

Recruiting or not-yet-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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Autosomal dominant Charcot-Marie-Tooth disease type 2J — 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.

"Autosomal dominant Charcot-Marie-Tooth disease type 2J" OR "CMT2J" OR "Charcot-Marie-Tooth disease, type 2J"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 2J

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

"Autosomal dominant Charcot-Marie-Tooth disease type 2J" OR "CMT2J" OR "Charcot-Marie-Tooth disease, type 2J"

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; 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 2026-07-27T06:43:56.863Z