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ORPHA:99936

Autosomal dominant Charcot-Marie-Tooth disease type 2B

medium confidenceDisorder

Also known as: CMT2B

Publications

309

74.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,039

Distinct authors in sample

Gene link

RAB7A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor , with onset in the 2nd or 3rd decade, characterized by ulcerations and infections of feet. Symmetric and distal weakness develops mostly in the legs together with a severe symmetric distal sensory loss, tendon reflexes are only reduced at ankles and foot deformities, including pes cavus or planus and hammer toes, appear in childhood.

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 (5)

Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A · Charcot-Marie-Tooth disease, type 2B · HMSN2B · RAB7A Charcot-Marie-Tooth disease type 2 · autosomal dominant Charcot-Marie-Tooth disease type 2B

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — RAB7A

  2. LiteraturePresent

    309 matched papers (153 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 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 (RAB7A).

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?

309

309 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.

309 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).

153 in the last 10 years · medium confidence · 74.3th percentile (publications denominator)

Phrase hits: 309 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,039

Distinct author names in 200 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
    Bucci C24 papers · 2025

    Department of Biological and Environmental Sciences and Technologies (DiSTeBA), University of Salento, Via Provinciale Monteroni, 73100 Lecce, Italy. cecilia.bucci@unisalento.it

    Papers in Europe PMC
  2. 02
    Manganelli F9 papers · 2025

    From the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., L.S.), University Federico II of Naples; Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurological and Movement Sciences, University of Verona (G.M.F.), and the Department of Neurosciences, AOUI Verona (T.C.), University Hospital G.B. Rossi, Verona, Italy; and the Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics, Iowa City.

    Papers in Europe PMC
  3. 03
    Timmerman V9 papers · 2022

    Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, Antwerp, Belgium.

    Papers in Europe PMC
  4. 04
    Guerra F8 papers · 2025

    Department of Biological and Environmental Sciences and Technologies, Università del Salento, 73100 Lecce, Italy.

    Papers in Europe PMC
  5. 05
    Romano R8 papers · 2024

    Department of Biological and Environmental Sciences and Technologies, Università del Salento, 73100 Lecce, Italy.

    Papers in Europe PMC
  6. 06
    Nolano M7 papers · 2022

    From the Departments of Neurosciences, Reproductive Sciences, and Odontostomatology (F.M., C.P., L.S.), University Federico II of Naples; Neurology Division (M.N., V.P., A.S., G.C.), "Salvatore Maugeri" Foundation, Institute of Telese Terme; the Department of Neurological and Movement Sciences, University of Verona (G.M.F.), and the Department of Neurosciences, AOUI Verona (T.C.), University Hospital G.B. Rossi, Verona, Italy; and the Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics, Iowa City.

    Papers in Europe PMC
  7. 07
    Progida C7 papers · 2019

    Department of Biosciences, University of Oslo, 0316 Oslo, Norway. c.a.m.progida@ibv.uio.no.

    Papers in Europe PMC
  8. 08
    Auer-Grumbach M6 papers · 2014

    Department of Neurology, Karl-Franzens University Graz, Austria.

    Papers in Europe PMC
  9. 09
    De Jonghe P6 papers · 2009

    Flanders Interuniversity Institute for Biotechnology (VIB), Born Bunge Foundation (BBS), University of Antwerp (UIA), Antwerpen, Belgium.

    Papers in Europe PMC
  10. 10
    Cogli L5 papers · 2014

    DiSTeBA (Department of Environmental and Biological Sciences and Technologies), University of Salento, Via Provinciale Monteroni, Lecce, 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. 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 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th 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

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.

"Autosomal dominant Charcot-Marie-Tooth disease type 2B" OR "CMT2B" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" OR "Charcot-Marie-Tooth disease, type 2B" OR "HMSN2B" OR "RAB7A Charcot-Marie-Tooth disease type 2"

Run this search on Europe PMC

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

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

"Autosomal dominant Charcot-Marie-Tooth disease type 2B" OR "CMT2B" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in RAB7A" OR "Charcot-Marie-Tooth disease, type 2B" OR "HMSN2B" OR "RAB7A Charcot-Marie-Tooth disease type 2" OR "RAB7A" OR "Charcot-Marie-Tooth disease type 2"

Recall-expansion terms: RAB7A, Charcot-Marie-Tooth disease type 2

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, 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
  • Publication count (309) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T06:42:33.812Z