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ORPHA:643

Giant axonal neuropathy

medium confidenceDisorder

Also known as: GAN

Publications

805

81.2th percentile

Trials

2

Interventional, condition-specific

Researchers

1,157

Distinct authors in sample

Gene link

GAN

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Giant axonal (GAN) is a severe, slowly neurodegenerative disorder characterized by motor and sensory peripheral , central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (8)

GAN giant axonal neuropathy · gan · gan giant axonal neuropathy · giant axonal neuropathy 1 · giant axonal neuropathy caused by mutation in GAN · giant axonal neuropathy caused by mutation in gan · giant axonal neuropathy type 1 · giant axonal neuropathy-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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — GAN

  2. LiteraturePresent

    805 matched papers (413 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Joint hypermobility; Abnormal Achilles tendon morphology; Intellectual disability) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. adeno-associated virus vector serotype 9 encoding human gigaxonin gene Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 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 (GAN).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0009749

  • Joint hypermobility
  • Abnormal Achilles tendon morphology
  • Intellectual disability
  • Talipes equinovarus
  • Unsteady gait

Showing 5 of 57 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA adeno-associated virus vector serotype 9 encoding human gigaxonin geneTreatment of giant axonal neuropathy · 13/04/2022 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

805

805 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.

805 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).

413 in the last 10 years · medium confidence · 81.2th percentile (publications denominator)

Phrase hits: 719 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,157

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
    Armao D17 papers · 2025

    Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

    Papers in Europe PMC
  2. 02
    Gray SJ14 papers · 2026

    Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

    Papers in Europe PMC
  3. 03
    Opal P11 papers · 2025

    Davee Department of Neurology, Northwestern University, Chicago, IL 60611.

    Papers in Europe PMC
  4. 04
    Bailey RM10 papers · 2026

    Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

    Papers in Europe PMC
  5. 05
    Bomont P9 papers · 2025

    ATIP-Avenir team, INM, INSERM, University of Montpellier, Montpellier, France.

    Papers in Europe PMC
  6. 06
    Bouldin TW9 papers · 2025

    Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

    Papers in Europe PMC
  7. 07
    Phillips CL7 papers · 2025

    Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, USA.

    Papers in Europe PMC
  8. 08
    Snider NT6 papers · 2025

    Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, USA. Electronic address: ntsnider@med.unc.edu.

    Papers in Europe PMC
  9. 09
    Snider N5 papers · 2025

    Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill.

    Papers in Europe PMC
  10. 10
    Bharucha-Goebel D4 papers · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood, NINDS/NIH, Bethesda, MD, USA; Division of Neurology, Children's National Hospital, Washington, DC, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for axonal 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 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: axonal 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.

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.

None of the matched observational studies is currently listed as 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 2026-07-29

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 Giant axonal neuropathy — 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.

("Giant axonal neuropathy" OR "GAN giant axonal neuropathy" OR "giant axonal neuropathy 1" OR "giant axonal neuropathy caused by mutation in GAN" OR "giant axonal neuropathy type 1" OR "giant axonal neuropathy-1") OR ("GAN syndrome" OR "GAN-related")

Run this search on Europe PMC

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

"Giant axonal neuropathy" OR "GAN giant axonal neuropathy" OR "giant axonal neuropathy 1" OR "giant axonal neuropathy caused by mutation in GAN" OR "giant axonal neuropathy type 1" OR "giant axonal neuropathy-1"

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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"axonal neuropathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: GAN

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 2026-07-26T14:42:35.366Z