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ORPHA:99956

Charcot-Marie-Tooth disease type 4B2

low confidenceDisorder

Also known as: CMT4B2

Publications

1,115

Trials

0

Interventional, condition-specific

Researchers

906

Distinct authors in sample

Gene link

SBF2

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of Charcot-Marie-Tooth disease type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor , early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT (i.e. distal muscle weakness and atrophy, sensory loss, absence of deep tendon reflexes, and frequent pes cavus). Severe visual impairment leading to visual loss, usually associated with glaucoma, and vocal cord paresis, has 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 (2)

Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2 · SBF2 Charcot-Marie-Tooth disease type 4

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

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

  1. Gene identifiedPresent

    Definitive — SBF2

  2. LiteraturePresent

    1,115 matched papers (881 in last 10 years) Source

  3. Phenotype characterisedPresent

    60 HPO annotations (e.g. Decreased motor nerve conduction velocity; Distal muscle weakness; Segmental peripheral demyelination/remyelination) Source

  4. Animal modelPresent

    2 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 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 (SBF2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

60

Associated phenotypes · MONDO:0011475

  • Decreased motor nerve conduction velocity
  • Distal muscle weakness
  • Segmental peripheral demyelination/remyelination
  • Split hand
  • Decreased number of peripheral myelinated nerve fibers

Showing 5 of 60 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

1,115

1,115 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.

1,115 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).

881 in the last 10 years · low confidence

Phrase hits: 160 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

906

Distinct author names in 160 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
    Bolino A11 papers · 2025

    Dulbecco Telethon Institute, San Raffaele Scientific Institute, 20132 Milan, Italy. bolino.alessandra@hsr.it

    Papers in Europe PMC
  2. 02
    Previtali SC9 papers · 2025

    INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  3. 03
    Reilly MM7 papers · 2025

    Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, Queen Square, UK. m.reilly@ion.ucl.ac.uk

    Papers in Europe PMC
  4. 04
    Shy ME7 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
    Senderek J6 papers · 2018

    Department of Human Genetics, Aachen University of Technology, Aachen, Germany. jsenderek@ukaachen.de

    Papers in Europe PMC
  6. 06
    Laporte J5 papers · 2023

    Institute of Genetics and Molecular and Cellular Biology (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg, Illkirch, France.

    Papers in Europe PMC
  7. 07
    Mégarbané A5 papers · 2023

    Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon.

    Papers in Europe PMC
  8. 08
    Parman Y5 papers · 2025

    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.

    Papers in Europe PMC
  9. 09
    Quattrini A5 papers · 2017

    Department of Neurology, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy; Experimental Neuropathology Unit, INSPE and Division of Neuroscience, San Raffaele Scientific Institute, Via Olgettina 60, 20132 Milan, Italy.

    Papers in Europe PMC
  10. 10
    Robinson FL5 papers · 2022

    Department of Pharmacology, The University of California San Diego, La Jolla, California 92093, 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 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.

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 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 4B2 — 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 4B2" OR "CMT4B2" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" OR "SBF2 Charcot-Marie-Tooth disease type 4") OR (MESH:"Charcot-Marie-Tooth disease, Type 4B2") OR ("SBF2" OR "SBF2 syndrome" OR "SBF2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 4B2

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

"Charcot-Marie-Tooth disease type 4B2" OR "CMT4B2" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2" OR "SBF2 Charcot-Marie-Tooth disease type 4" OR "Charcot-Marie-Tooth disease, Type 4B2"

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
  • Publication count (1115) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:46:43.117Z