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ORPHA:100044

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

low confidenceDisorder

Also known as: CMTDIB

Publications

2,597

Trials

0

Interventional, condition-specific

Researchers

392

Distinct authors in sample

Gene link

DNM2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare motor and sensory characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

CMTDI1 · Charcot-Marie-Tooth disease caused by mutation in DNM2 · Charcot-Marie-Tooth disease dominant intermediate type B · Charcot-Marie-Tooth disease, axonal type 2M · Charcot-Marie-Tooth disease, dominant Intermediate type B · DI-CMTB · DNM2 Charcot-Marie-Tooth disease

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — DNM2

  2. LiteraturePresent

    2,597 matched papers (1,852 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Hyporeflexia; Onion bulb formation; Areflexia) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (DNM2).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0011674

  • Hyporeflexia
  • Onion bulb formation
  • Areflexia
  • Distal muscle weakness
  • Segmental peripheral demyelination/remyelination

Showing 5 of 12 — 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?

2,597

2,597 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.

2,597 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).

1,852 in the last 10 years · low confidence

Phrase hits: 70 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

392

Distinct author names in 70 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
    Laporte J8 papers · 2025

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  2. 02
    Shy ME4 papers · 2013
    Papers in Europe PMC
  3. 03
    Timmerman V4 papers · 2017

    Peripheral Neuropathy Research Group, Institute Born Bunge, University of AntwerpAntwerpen, Belgium.

    Papers in Europe PMC
  4. 04
    Cowling BS3 papers · 2021

    Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM, U964, CNRS, UMR7104, Université de Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France. INSERM UMR974, F-75013, Paris, France. CNRS, UMR7215, F-75013, Paris, France. Sorbonne Universités, Université Pierre et Marie Curie–Paris 6, UM76, F-75005, Paris France. Institut de Myologie, F-75013, Paris France. Université Paris Descartes, Paris Sorbonne Cité, F-75006, Paris, France. Department of Pediatrics, Strasbourg-Hautepierre University Hospital, Strasbourg, France. Unité de Morphologie Neuromusculaire, Institut de Myologie, GHU La Pitié-Salpêtrière, Paris, France. Université Pierre et Marie Curie–Paris 6, UM76, F-75013, Paris, France. Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  5. 05
    De Jonghe P3 papers · 2009
    Papers in Europe PMC
  6. 06
    Jungbluth H3 papers · 2014

    Neuromuscular Service, Department of Paediatric Neurology, Evelina Children's Hospital, St Thomas' Hospital , London , UK ; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London , London , UK ; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence , London , UK.

    Papers in Europe PMC
  7. 07
    Suter U3 papers · 2020

    Department of Biology, Institute of Molecular Health Sciences, Swiss Federal Institute of Technology, ETH Zurich, Zurich, Switzerland.

    Papers in Europe PMC
  8. 08
    Vance JM3 papers · 2009
    Papers in Europe PMC
  9. 09
    Züchner S3 papers · 2009

    Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA.

    Papers in Europe PMC
  10. 10
    Bragato C2 papers · 2016

    Neuromuscular Diseases and Neuroimmunology Unit, IRCCS Neurological Institute C. Besta, Milano, 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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

low 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.

Broader category autosomal dominant intermediate Charcot-Marie-Tooth disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Broader category: autosomal dominant intermediate Charcot-Marie-Tooth disease

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B — 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 intermediate Charcot-Marie-Tooth disease type B" OR "CMTDIB" OR "CMTDI1" OR "Charcot-Marie-Tooth disease dominant intermediate type B" OR "Charcot-Marie-Tooth disease, axonal type 2M" OR "Charcot-Marie-Tooth disease, dominant Intermediate type B" OR "DI-CMTB" OR "DNM2 Charcot-Marie-Tooth disease") OR ("DNM2" OR "DNM2 syndrome" OR "DNM2-related")

Run this search on Europe PMC

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

"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" OR "CMTDIB" OR "CMTDI1" OR "Charcot-Marie-Tooth disease dominant intermediate type B" OR "Charcot-Marie-Tooth disease, axonal type 2M" OR "Charcot-Marie-Tooth disease, dominant Intermediate type B" OR "DI-CMTB" OR "DNM2 Charcot-Marie-Tooth disease"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"autosomal dominant intermediate Charcot-Marie-Tooth disease"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Charcot-Marie-Tooth disease caused by mutation in DNM2

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2597) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T06:56:26.708Z