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ORPHA:98856

Charcot-Marie-Tooth disease type 2B1

high confidenceDisorder

Also known as: AR-CMT2B1 · Autosomal recessive Charcot-Marie-Tooth disease type 2B1 · Autosomal recessive axonal CMT4C1

Publications

141

59.5th percentile

Trials

5

Interventional, condition-specific

Researchers

913

Distinct authors in sample

Gene link

LMNA

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.

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 (6)

CMT2B1 · Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA · Charcot-Marie-Tooth disease, type 2B1 · LMNA Charcot-Marie-Tooth disease type 2 · autosomal recessive Charcot-Marie-Tooth disease type 2B1 · autosomal recessive axonal CMT4C1

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.

  1. Gene identifiedPresent

    Strong — LMNA

  2. LiteraturePresent

    141 matched papers (68 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (3 recruiting in sample)

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 (LMNA).

GenCC classification: Strong.

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?

141

141 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=5449) is 41.

141 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).

68 in the last 10 years · high confidence · 59.5th percentile (publications denominator)

Phrase hits: 141 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

913

Distinct author names in 141 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
    Worman HJ6 papers · 2022

    Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. hjw14@columbia.edu

    Papers in Europe PMC
  2. 02
    Cacabelos R3 papers · 2012

    EuroEspes Biomedical Research Center, Institute for CNS Disorders and Genomic Medicine, EuroEspes Chair of Biotechnology and Genomics, Camilo José Cela University, 15165 Bergondo, Spain.

    Papers in Europe PMC
  3. 03
    De Sandre-Giovannoli A3 papers · 2018

    INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France.

    Papers in Europe PMC
  4. 04
    Lattanzi G3 papers · 2021

    CNR Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza", Unit of Bologna, 40136 Bologna, Italy.

    Papers in Europe PMC
  5. 05
    Lévy N3 papers · 2018

    Aix Marseille Univ, INSERM, MMG, Marseille, France.

    Papers in Europe PMC
  6. 06
    Nigro V3 papers · 2014

    Seconda Università degli Studi di Napoli, Naples, Italy.

    Papers in Europe PMC
  7. 07
    Ostlund C3 papers · 2010

    Department of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, Tenth Floor, New York, New York 10032, USA.

    Papers in Europe PMC
  8. 08
    Rzepecki R3 papers · 2025

    Laboratory of Nuclear Proteins, Faculty of Biotechnology, University of Wroclaw, Fryderyka Joliot-Curie 14a, 50-383 Wroclaw, Poland. ryszard.rzepecki@uwr.edu.pl.

    Papers in Europe PMC
  9. 09
    Stewart CL3 papers · 2007

    Laboratory of Cancer and Developmental Biology, National Cancer Institute, Frederick, Maryland 21702, USA. stewartc@ncifcrf.gov

    Papers in Europe PMC
  10. 10
    Askjaer P2 papers · 2017

    a Andalusian Center for Developmental Biology (CABD) , CSIC/Junta de Andalucia/Universidad Pablo de Olavide , Seville , Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 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 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

high confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

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

2 observational studies match 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

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 2026-07-26

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 2B1" OR "AR-CMT2B1" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2B1" OR "Autosomal recessive axonal CMT4C1" OR "CMT2B1" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" OR "Charcot-Marie-Tooth disease, type 2B1" OR "LMNA Charcot-Marie-Tooth disease type 2"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 2B1

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

"Charcot-Marie-Tooth disease type 2B1" OR "AR-CMT2B1" OR "Autosomal recessive Charcot-Marie-Tooth disease type 2B1" OR "Autosomal recessive axonal CMT4C1" OR "CMT2B1" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA" OR "Charcot-Marie-Tooth disease, type 2B1" OR "LMNA Charcot-Marie-Tooth disease type 2" OR "LMNA"

Recall-expansion terms: LMNA

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 2 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, recall-expansion; with hits: phrase, mesh, recall-expansion

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 2026-07-27T05:36:32.384Z