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ORPHA:99946

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

low confidenceDisorder

Also known as: CMT2A1

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

1,090

Trials

1

Interventional, condition-specific

Researchers

1,114

Distinct authors in sample

Gene link

KIF1B

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor , presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.

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 (9)

CMT2A · Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B · Charcot-Marie-Tooth disease type 2A · Charcot-Marie-Tooth disease type 2A1 · Charcot-Marie-Tooth disease, type 2A1 · HMSN IIA1 · HMSN2A1 · KIF1B Charcot-Marie-Tooth disease type 2 · hereditary motor and sensory neuropathy IIA1

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

    Limited — KIF1B

  2. LiteraturePresent

    1,090 matched papers (682 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

    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?

Possibly — only limited evidence so far for KIF1B.

GenCC classification: Limited.

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?

1,090

1,090 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.

1,090 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).

682 in the last 10 years · low confidence

Phrase hits: 1,090 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,114

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.

  1. 01
    Dorn GW16 papers · 2024

    Center for Pharmacogenomics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri.

    Papers in Europe PMC
  2. 02
    Franco A11 papers · 2024

    Center for Pharmacogenomics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

    Papers in Europe PMC
  3. 03
    Rizzo F11 papers · 2026

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Abati E10 papers · 2026

    Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Corti S10 papers · 2025

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy. Electronic address: stefania.corti@unimi.it.

    Papers in Europe PMC
  6. 06
    Dang X9 papers · 2023

    Department of Internal Medicine, Washington University School of Medicine, St. Louis MO USA.

    Papers in Europe PMC
  7. 07
    Shy ME9 papers · 2025

    Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, USA.

    Papers in Europe PMC
  8. 08
    Comi GP8 papers · 2026

    Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Li J7 papers · 2026

    Center for Pharmacogenomics, Department of Internal Medicine, Washington University School of Medicine, 660 S. Euclid Ave., St. Louis, Missouri 63110, United States.

    Papers in Europe PMC
  10. 10
    Shutt TE7 papers · 2025

    Departments of Medical Genetics and Biochemistry & Molecular Biology, Cumming School of Medicine, Hotchkiss Brain Institute, Snyder Institute for Chronic Diseases, Alberta Children's Hospital Research Institute; University of Calgary, Calgary, Canada timothy.shutt@ucalgary.ca.

    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).

low 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

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.

"Autosomal dominant Charcot-Marie-Tooth disease type 2A1" OR "CMT2A1" OR "CMT2A" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" OR "Charcot-Marie-Tooth disease type 2A" OR "Charcot-Marie-Tooth disease type 2A1" OR "Charcot-Marie-Tooth disease, type 2A1" OR "HMSN IIA1" OR "HMSN2A1" OR "KIF1B Charcot-Marie-Tooth disease type 2" OR "hereditary motor and sensory neuropathy IIA1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Disease, Axonal, Type 2a1

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

"Autosomal dominant Charcot-Marie-Tooth disease type 2A1" OR "CMT2A1" OR "CMT2A" OR "Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B" OR "Charcot-Marie-Tooth disease type 2A" OR "Charcot-Marie-Tooth disease type 2A1" OR "Charcot-Marie-Tooth disease, type 2A1" OR "HMSN IIA1" OR "HMSN2A1" OR "KIF1B Charcot-Marie-Tooth disease type 2" OR "hereditary motor and sensory neuropathy IIA1" OR "Charcot-Marie-Tooth Disease, Axonal, Type 2a1" OR "KIF1B"

Recall-expansion terms: KIF1B

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 · 2 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, mesh, 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
  • Publication count (1090) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T06:44:33.724Z