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ORPHA:101083

Charcot-Marie-Tooth disease type 1C

high confidenceDisorder

Also known as: CMT1C

Publications

185

59.8th percentile

Trials

0

Interventional, condition-specific

Researchers

978

Distinct authors in sample

Gene link

LITAF

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, , , demyelinating motor and sensory which may present either as a classic Charcot-Marie-Tooth disease with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.

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 (4)

Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF · Charcot-Marie-Tooth disease, type 1C · HMSN1C · LITAF Charcot-Marie-Tooth disease type 1

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 — LITAF

  2. LiteraturePresent

    185 matched papers (69 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 (LITAF).

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?

185

185 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.

185 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).

69 in the last 10 years · high confidence · 59.8th percentile (publications denominator)

Phrase hits: 185 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

978

Distinct author names in 185 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
    Chance PF13 papers · 2005

    Department of Pediatrics, University of Utah Medical Center, Salt Lake City.

    Papers in Europe PMC
  2. 02
    Shy ME10 papers · 2020

    Departments of Neurology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Departments of Neurology, Wayne State University, Detroit, Michigan, USA.

    Papers in Europe PMC
  3. 03
    Bird TD8 papers · 2018

    From the Taub Institute for Research on Alzheimer's Disease and the Aging Brain (G.T., J.M., R.O., N.S., Y.S., R.M.), Gertrude H. Sergievsky Center (G.T., J.M., N.S., Y.S., R.M.), and Department of Neurology (G.T., J.M., R.O., N.S., Y.S.), Columbia University College of Physicians and Surgeons, New York; New York Presbyterian Hospital (G.T., J.M., R.O., N.S., Y.S.), NY; Departments of Neurology and Medicine (T.D.B., D.T.), University of Washington, Seattle; Rush Alzheimer's Disease Center (D.A.B.), Rush University Medical Center, Chicago, IL; Department of Neurology (B.F.B.), Mayo Clinic, Rochester, MN; Hope Center for Neurological Disorders (C.C.), Washington University, St Louis, MO; Department of Medical and Molecular Genetics (K.F., T.M.F.), Indiana University; Department of Neurology (M.F.), Indiana University Center for Alzheimer's Disease and Related Disorders, Indianapolis; Department of Neuroscience (A.M.G., S.B.), Mount Sinai School of Medicine, New York, NY; Department of Neurology (N.R.G.-R.), Mayo Clinic, Jacksonville, FL; School of Medicine (M.M., R.M.), Mother and Teacher Pontifical Catholic University, Santiago, Dominican Republic; Department of Medicine (R.L.) and Department of Epidemiology, Mailman School of Public Health (R.O., N.S.), Columbia University, New York; Division of Epidemiology (R.O.), New York State Psychiatric Institute, New York; Department of Neurology and Neurotherapeutics (R.R.), The University of Texas Southwestern Medical Center, Dallas; Department of Health Sciences Research (D.J.S.), Mayo Clinic, Rochester, MN; and Department of Psychiatry, Neurology and Epidemiology (R.A.S.), University of Pittsburgh, PA.

    Papers in Europe PMC
  4. 04
    Li L8 papers · 2023

    BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.

    Papers in Europe PMC
  5. 05
    Reilly MM8 papers · 2020

    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
  6. 06
    Chin LS7 papers · 2017

    Department of Pharmacology and Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, GA, 30322, USA.

    Papers in Europe PMC
  7. 07
    Lee SM7 papers · 2017

    Department of Pharmacology, Emory University School of Medicine, Atlanta, GA USA.

    Papers in Europe PMC
  8. 08
    Scherer SS7 papers · 2024

    From the Department of Neurology (E.B., K.R.P., C.Q., S.S.S., E.L.), University of Pennsylvania, Philadelphia; Department of Neurology (L.Y., H.Z.), Second Xiangya Hospital of Central South University, Changsha, China; and MRC Centre for Neuromuscular Diseases (M.M.R., A.M.R.), UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.

    Papers in Europe PMC
  9. 09
    Timmerman V6 papers · 2019

    Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium vincent.timmerman@uantwerpen.be.

    Papers in Europe PMC
  10. 10
    Bird T5 papers · 2014

    From the Departments of Neurology (D.C.R., J.C.M., R.J.B.), Biostatistics (C.X.), and Psychiatry (A.G.), Washington University School of Medicine, St. Louis, MO; Neurologische Klinik Ludwig-Maximilians-Universität Munich and German Center for Neurodegenerative Diseases (A.D.), Munich, Germany; Department of Neurosciences (P.S.A.), University of California San Diego; Mental Health Research Institute (C.L.M.), University of Melbourne, Australia; Grupo de Neurociencias de Antioquia (N.A.-B., F.L., S.M.), Universidad de Antioquia, Medellín, Colombia; Department of Neurology (E.M.), University of Pittsburgh, PA; Department of Neurology (T.B.), University of Washington, Seattle; Banner Alzheimer's Institute (J.B.S.L., E.M.R., P.N.T.), Phoenix, AZ; Neuroscience Research Australia and University of New South Wales (P.R.S.), Sydney, Australia; Edith Cowan University (R.M.), Western Australia; Easton Center for Alzheimer's Disease Research at UCLA (J.M.R.), Los Angeles, CA; Department of Neurology (R.P.M.), Columbia University, New York, NY; Queen Square Institute of Neurology (N.C.F.), University College London; Department of Neurology (S.S.), Warren Alpert Medical School, Brown University, Providence, RI; and Center for Alzheimer Research and Treatment (R.S.), Brigham and Women's Hospital and Massachusetts General Hospital, Boston.

    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.

high 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.

"Charcot-Marie-Tooth disease type 1C" OR "CMT1C" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" OR "Charcot-Marie-Tooth disease, type 1C" OR "HMSN1C" OR "LITAF Charcot-Marie-Tooth disease type 1"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth disease, Type 1C

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

"Charcot-Marie-Tooth disease type 1C" OR "CMT1C" OR "Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF" OR "Charcot-Marie-Tooth disease, type 1C" OR "HMSN1C" OR "LITAF Charcot-Marie-Tooth disease type 1" OR "LITAF"

Recall-expansion terms: LITAF

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

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 2026-07-27T07:17:29.314Z