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ORPHA:90120

Hereditary motor and sensory neuropathy type 6

medium confidenceDisorder

Also known as: CMT6 · Charcot-Marie-Tooth disease type 6 · HMSN 6 · HMSN VI · Hereditary motor and sensory neuropathy type VI · Peripheral neuropathy and optic atrophy

Publications

117

49.5th percentile

Trials

0

Interventional, condition-specific

Researchers

749

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare axonal motor and sensory disease characterized by , peripheral, axonal sensorimotor (of variable severity), affecting predominantly the distal lower limbs, associated with , variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.

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)

hereditary motor and sensory neuropathy type 6 · peripheral neuropathy and optic atrophy

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    117 matched papers (58 in last 10 years) Source

  3. Phenotype characterisedPresent

    80 HPO annotations (e.g. Steppage gait; Distal amyotrophy; Tinnitus) Source

  4. Animal modelPresent

    1 genotype model (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; 1 for broader category hereditary motor and sensory neuropathy

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

80

Associated phenotypes · MONDO:0019551

  • Steppage gait
  • Distal amyotrophy
  • Tinnitus
  • Distal sensory impairment
  • Distal sensory impairment of all modalities

Showing 5 of 80 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

117

117 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=3967) is 59.

117 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).

58 in the last 10 years · medium confidence · 49.5th percentile (publications denominator)

Phrase hits: 117 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

749

Distinct author names in 117 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
    Horvath R5 papers · 2026

    Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, U.K. rita.horvath@ncl.ac.uk.

    Papers in Europe PMC
  2. 02
    Reilly MM5 papers · 2024

    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
  3. 03
    Yu-Wai-Man P5 papers · 2016

    Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

    Papers in Europe PMC
  4. 04
    Chinnery PF4 papers · 2012
    Papers in Europe PMC
  5. 05
    Choi BO4 papers · 2016

    Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135‑710, Republic of Korea.

    Papers in Europe PMC
  6. 06
    Lenaers G4 papers · 2022

    Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France. guy.lenaers@inserm.fr

    Papers in Europe PMC
  7. 07
    Santorelli FM4 papers · 2025

    Molecular Medicine, IRCCS Fondazione Stella Maris, 56128 Pisa, Italy.

    Papers in Europe PMC
  8. 08
    Züchner S4 papers · 2026

    Department of Human Genetics, Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10 Ave., Miami, FL 33136, USA. SZuchner@med.miami.edu.

    Papers in Europe PMC
  9. 09
    Carelli V3 papers · 2016

    IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.

    Papers in Europe PMC
  10. 10
    Chiaramello A3 papers · 2021

    Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address: achiaram@gwu.edu.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1 trial are registered for hereditary motor and sensory neuropathy, 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.

medium 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.

1 interventional trial matched hereditary motor and sensory neuropathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hereditary motor and sensory neuropathy

1

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.

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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).

Uncertain / not reviewed (6)

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 Hereditary motor and sensory neuropathy type 6 — 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.

"Hereditary motor and sensory neuropathy type 6" OR "Charcot-Marie-Tooth disease type 6" OR "HMSN 6" OR "HMSN VI" OR "Hereditary motor and sensory neuropathy type VI" OR "Peripheral neuropathy and optic atrophy"

Run this search on Europe PMC

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

"Hereditary motor and sensory neuropathy type 6" OR "Charcot-Marie-Tooth disease type 6" OR "HMSN 6" OR "HMSN VI" OR "Hereditary motor and sensory neuropathy type VI" OR "Peripheral neuropathy and optic atrophy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hereditary motor and sensory neuropathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: CMT6

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T03:40:21.647Z