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ORPHA:101082

Charcot-Marie-Tooth disease type 1B

high confidenceDisorder

Also known as: CMT1B

Publications

661

76.6th percentile

Trials

1

Interventional, condition-specific

Researchers

1,069

Distinct authors in sample

Gene link

MPZ

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Charcot-Marie-Tooth disease type 1B (CMT1B) is a form of CMT1, caused by mutations in the MPZ gene (1q22), that presents with the manifestations of peripheral (distal muscle weakness and atrophy, foot deformities and sensory loss). The is variable depending on the particular mutation. Two distinct presentations have been described: (1) an early onset severe with delayed walking and motor nerve conduction velocities (MNCV) age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities. CMT1B can also cause the classical CMT in about 15% of total CMT1B cases.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

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 MPZ · Charcot-Marie-Tooth disease, type 1B · HMSN IB · HMSN1B · MPZ Charcot-Marie-Tooth disease type 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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — MPZ

  2. LiteraturePresent

    661 matched papers (312 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Kyphoscoliosis; Ulnar claw; Distal muscle weakness) Source

  4. Animal modelPresent

    10 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  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 (MPZ).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0007307

  • Kyphoscoliosis
  • Ulnar claw
  • Distal muscle weakness
  • Distal sensory impairment
  • Cold-induced muscle cramps

Showing 5 of 36 — open Monarch for the full list.

Animal models (Monarch / Alliance)

10

Model associations linked to this Mondo ID

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?

661

661 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=3967) is 59.

661 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).

312 in the last 10 years · high confidence · 76.6th percentile (publications denominator)

Phrase hits: 653 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,069

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 ME25 papers · 2025

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

    Papers in Europe PMC
  2. 02
    Feltri ML12 papers · 2024

    Hunter James Kelly Research Institute, University at Buffalo, Buffalo, New York, United States of America.

    Papers in Europe PMC
  3. 03
    Wrabetz L11 papers · 2024

    Hunter James Kelly Research Institute, University at Buffalo, Buffalo, New York, United States of America.

    Papers in Europe PMC
  4. 04
    Ferri C10 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Pareyson D10 papers · 2025

    Unit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  6. 06
    D'Antonio M9 papers · 2025

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

    Papers in Europe PMC
  7. 07
    Del Carro U9 papers · 2025

    Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Bai Y8 papers · 2022

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

    Papers in Europe PMC
  9. 09
    Bianchi F8 papers · 2025

    Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Fabrizi GM8 papers · 2025

    Department of Neurosciences, Biomedicine, and Movement Sciences, University of Verona, Verona, Italy.

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Charcot-Marie-Tooth disease type 1B — 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.

("Charcot-Marie-Tooth disease type 1B" OR "CMT1B" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" OR "Charcot-Marie-Tooth disease, type 1B" OR "HMSN IB" OR "HMSN1B" OR "MPZ Charcot-Marie-Tooth disease type 1") OR ("MPZ syndrome" OR "MPZ-related")

Run this search on Europe PMC

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

"Charcot-Marie-Tooth disease type 1B" OR "CMT1B" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ" OR "Charcot-Marie-Tooth disease, type 1B" OR "HMSN IB" OR "HMSN1B" OR "MPZ Charcot-Marie-Tooth disease type 1"

Interventional trials matched via: phrase (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 · 0 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; with hits: phrase

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 2026-07-27T07:17:14.900Z