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ORPHA:101083

Charcot-Marie-Tooth disease type 1C

low confidenceDisorder

Also known as: CMT1C

Publications

1,934

Trials

0

Interventional, condition-specific

Researchers

978

Distinct authors in sample

Gene link

LITAF

Strong

Readiness

5/6

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.”

5/6 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

    1,934 matched papers (1,239 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Paresthesia; Decreased motor nerve conduction velocity; Pes cavus) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

18

Associated phenotypes · MONDO:0010995

  • Paresthesia
  • Decreased motor nerve conduction velocity
  • Pes cavus
  • Distal amyotrophy
  • Polyneuropathy

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,934

1,934 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=3967) is 59.

1,934 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,239 in the last 10 years · low confidence

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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Charcot-Marie-Tooth disease type 1C — check Associations / patient organisations on that page.

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") OR (MESH:"Charcot-Marie-Tooth disease, Type 1C") OR ("LITAF" OR "LITAF syndrome" OR "LITAF-related")

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"

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; 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
  • Publication count (1934) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:17:29.314Z