RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:99954

Charcot-Marie-Tooth disease type 4H

high confidenceDisorder

Also known as: CMT4H

Publications

97

50.5th percentile

Trials

0

Interventional, condition-specific

Researchers

574

Distinct authors in sample

Gene link

FGD4

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly , demyelinating sensorimotor manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Some patients have thenar and hypothenar hypoplasia. Severely reduced nerve conduction velocities are associated.

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 (2)

Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4 · FGD4 Charcot-Marie-Tooth disease type 4

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 — FGD4

  2. LiteraturePresent

    97 matched papers (42 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 (FGD4).

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?

97

97 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.

97 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).

42 in the last 10 years · high confidence · 50.5th percentile (publications denominator)

Phrase hits: 97 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

574

Distinct author names in 97 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
    Delague V8 papers · 2023

    INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France. valerie.delague@medecine.univ-mrs.fr

    Papers in Europe PMC
  2. 02
    Lévy N7 papers · 2023

    Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France.

    Papers in Europe PMC
  3. 03
    Previtali SC5 papers · 2025

    INSPE-Institute of Experimental Neurology, San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Bolino A4 papers · 2025

    Human Inherited Neuropathies Unit, Institute of Experimental Neurology INSPE, Division of Neuroscience, IRCCS Ospedale San Raffaele, Via Olgettina 60, 20132, Milan, Italy. bolino.alessandra@hsr.it.

    Papers in Europe PMC
  5. 05
    Mégarbané A4 papers · 2023

    Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon.

    Papers in Europe PMC
  6. 06
    Poitelon Y4 papers · 2023

    Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, NY, USA.

    Papers in Europe PMC
  7. 07
    Reilly MM4 papers · 2016

    Department of Molecular Neurosciences, MRC Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery and Institute of Neurology, Queen Square, London WC1N 3BG, UK.

    Papers in Europe PMC
  8. 08
    Senderek J4 papers · 2013
    Papers in Europe PMC
  9. 09
    Suter U4 papers · 2012

    Institute of Cell Biology, Department of Biology, ETH Zürich, ETH-Hönggerberg, 8093, Zürich, Switzerland. usuter@cell.biol.ethz.ch

    Papers in Europe PMC
  10. 10
    Bernard-Marissal N3 papers · 2023

    Aix Marseille Univ, INSERM, MMG, U 1251, Marseille, France.

    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 4H" OR "CMT4H" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" OR "FGD4 Charcot-Marie-Tooth disease type 4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Charcot-Marie-Tooth Disease, Type 4H

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

"Charcot-Marie-Tooth disease type 4H" OR "CMT4H" OR "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4" OR "FGD4 Charcot-Marie-Tooth disease type 4" OR "Charcot-Marie-Tooth Disease, Type 4H" OR "FGD4" OR "Charcot-Marie-Tooth disease type 4"

Recall-expansion terms: FGD4, Charcot-Marie-Tooth disease type 4

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 2026-07-27T06:46:19.722Z