ORPHA:101082
Charcot-Marie-Tooth disease type 1B
Also known as: CMT1B
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
653
85.2th percentile
Trials
1
Interventional, condition-specific
Researchers
1,069
Distinct authors in sample
Gene link
MPZ
Definitive
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007307
- OMIM:118200
- UMLS:C0270912
- NCIT:C118782
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MPZ
- LiteraturePresent
653 matched papers (306 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
653
653 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.
653 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).
306 in the last 10 years · high confidence · 85.2th percentile (publications denominator)
Phrase hits: 653 · MeSH hits: 0
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.
- 01Shy ME25 papers · 2025
Department of Neurology, Carver College of Medicine University of Iowa Iowa City Iowa USA.
Papers in Europe PMC - 02Feltri ML12 papers · 2024
Hunter James Kelly Research Institute, University at Buffalo, Buffalo, New York, United States of America.
Papers in Europe PMC - 03Wrabetz L11 papers · 2024
Hunter James Kelly Research Institute, University at Buffalo, Buffalo, New York, United States of America.
Papers in Europe PMC - 04Ferri C10 papers · 2025
Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 05Pareyson 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 - 06D'Antonio M9 papers · 2025
Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 07Del Carro U9 papers · 2025
Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 08Bai Y8 papers · 2022
Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, Iowa.
Papers in Europe PMC - 09Bianchi F8 papers · 2025
Institute of Experimental Neurology (INSPE), Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 10Fabrizi 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 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
- NCT07140614·RECRUITING·A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.
Conditions: Charcot-Marie-Tooth Disease, Type 1A·Matched via name phrase
- NCT07726043·RECRUITING·Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07226297·ENROLLING BY INVITATION·Personalized Antisense Oligonucleotide for A Single Participant With GARS1 Gene Mutation Associated With Charcot-Marie-Tooth Disease Type 2D (CMT2D)
Conditions: Charcot-Marie-Tooth Disease Type 2D·Matched via name phrase
- NCT07447557·RECRUITING·Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)
Conditions: Charcot-Marie-Tooth Disease Type 4J·Matched via name phrase
- NCT07136844·RECRUITING·Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology
Conditions: Neuromuscular Diseases · Obesity (Disorder) · Myotonic Dystrophy 1 · Myasthenic Syndrome·Matched via name phrase
- NCT06881979·RECRUITING·High-Tech Rehabilitation Pathway for Chronic Adult Neuromuscular Diseases - Fit4MedRob-Chronic MND Project
Conditions: Amyotrophic Lateral Sclerosis · Chronic Inflammatory Demyelinating Neuropathy · Charcot-Marie-Tooth Disease·Matched via name phrase
- NCT06708468·RECRUITING·Personalized Training for People With Rare Neuromuscular Disorders
Conditions: Neuromuscular Diseases (NMD) · Charcot Marie Tooth Disease (CMT) · Facioscapulohumeral Muscular Dystrophy · Myotonic Dystrophy Type 1 (DM1)·Matched via name phrase
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
- NCT07188415·RECRUITING·CMT Gait, Mobility, Balance - AOFAS Grant
Conditions: Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT07152197·RECRUITING·Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)
Conditions: Polyneuropathy · Charcot Marie Tooth Disease (CMT)·Matched via name phrase
- NCT06328712·RECRUITING·Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
- NCT07049588·RECRUITING·Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease
Conditions: Charcot-Marie-Tooth Disease Type 1A·Matched via name phrase
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 2026-07-26This 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"
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" OR "MPZ"
Recall-expansion terms: MPZ
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: suspect — strategies attempted: phrase, recall-expansion; 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