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ORPHA:101081

Charcot-Marie-Tooth disease type 1A

high confidenceDisorder

Also known as: CMT1A · Microduplication 17p12

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

3,284

94.5th percentile

Trials

12

Interventional, condition-specific

Researchers

1,211

Distinct authors in sample

Gene link

PMP22

Definitive

Readiness

3/6

Stages with a signal

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

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 1A · Charcot-Marie-Tooth syndrome type 1A · HMSN1A · hereditary motor and sensory neuropathy 1A · microduplication 17p12

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

    Definitive — PMP22

  2. LiteraturePresent

    3,284 matched papers (1,472 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

    12 matched on ClinicalTrials.gov (4 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 (PMP22).

GenCC classification: Definitive.

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?

3,284

3,284 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.

3,284 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).

1,472 in the last 10 years · high confidence · 94.5th percentile (publications denominator)

Phrase hits: 3,284 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,211

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
    Choi BO15 papers · 2026

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Korea.

    Papers in Europe PMC
  2. 02
    Reilly MM11 papers · 2025

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK m.reilly@ucl.ac.uk.

    Papers in Europe PMC
  3. 03
    Nam SH10 papers · 2026

    Department of Biological Sciences, Kongju National University, Gongju, Republic of Korea; Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  4. 04
    Kim HS8 papers · 2026

    Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea. calmuri@naver.com.

    Papers in Europe PMC
  5. 05
    Shy ME7 papers · 2025

    From the The University of Sydney School of Health Sciences (M.R.M., P.B., K.M.D.C., M.J.M., J.B.), Faculty of Medicine and Health; Sydney Children's Hospitals Network (Randwick and Westmead) (M.R.M., P.B., K.M.C., J.B.), New South Wales, Australia; Department of Neurology (K.J.E., D.N.H.), University of Rochester, NY; Department of Neurology (M.E.S.), Carver College of Medicine, University of Iowa; Centre for Neuromuscular Diseases (M.M.R., G.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (S.S.S.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Fondazione IRCCS Istituto Neurologico Carlo Besta (D.P.), Milan, Italy; and The Children's Hospital of Philadelphia, and Perelman School of Medicine at the University of Pennsylvania (T.E.), Philadelphia.

    Papers in Europe PMC
  6. 06
    Bjelica B6 papers · 2026

    Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 6, Dr Subotic Street, Belgrade, 11 000, Serbia.

    Papers in Europe PMC
  7. 07
    Bozovic I6 papers · 2026

    Neurology Clinic, Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, 6, Dr Subotic Street, Belgrade, 11 000, Serbia.

    Papers in Europe PMC
  8. 08
    Chung KW6 papers · 2025

    Department of Biological Sciences, Kongju National University, Gongju 32588, Korea.

    Papers in Europe PMC
  9. 09
    Attarian S5 papers · 2024

    Department of Neurology and Neuromuscular disorders, Hôtel de la Timone, Marseille, France.

    Papers in Europe PMC
  10. 10
    Baas F5 papers · 2026

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 4 currently recruiting in our sample. 31 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

12 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.5th percentile).

high confidence · 92.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: Charcot-Marie-Tooth disease

31

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

6 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 1A" OR "CMT1A" OR "Microduplication 17p12" OR "Charcot-Marie-Tooth disease, type 1A" OR "Charcot-Marie-Tooth syndrome type 1A" OR "HMSN1A" OR "hereditary motor and sensory neuropathy 1A"

Run this search on Europe PMC

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

"Charcot-Marie-Tooth disease type 1A" OR "CMT1A" OR "Microduplication 17p12" OR "Charcot-Marie-Tooth disease, type 1A" OR "Charcot-Marie-Tooth syndrome type 1A" OR "HMSN1A" OR "hereditary motor and sensory neuropathy 1A" OR "PMP22"

Recall-expansion terms: PMP22

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: 12 interventional · 6 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, 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

Ingested 2026-07-27T07:16:58.517Z