RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98919

Miller Fisher syndrome

high confidenceDisorder

Also known as: Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome · Fisher syndrome

Publications

4,553

91.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,039

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare acquired peripheral characterized by acute ophthalmoplegia, , and areflexia, typically manifesting with diplopia and unsteady gait, and generalized areflexia.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (11)

Guillain Barre syndrome, Miller Fisher variant · Guillain-Barre syndrome, Miller Fisher variant · Miller Fisher variant of Guillain Barre syndrome · Miller-Fisher syndrome · cranial variant of GBS · cranial variant of Guillain-Barre syndrome · cranial variant of Guillain-Barré syndrome · ophthalmoplegia, ataxia and areflexia syndrome · syndrome, Fisher · syndrome, Miller Fisher · syndrome, Miller-Fisher

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    4,553 matched papers (2,804 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Areflexia; Diplopia; Horizontal nystagmus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

26

Associated phenotypes · MONDO:0005851

  • Areflexia
  • Diplopia
  • Horizontal nystagmus
  • Ataxia
  • Tetraparesis

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

2 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • rEV576 protein, tick · therapeutic
  • Tacrolimus · marker/mechanism

MyDisease.info · MONDO:0005851

Literature

Is anyone studying this?

4,553

4,553 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.

4,553 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).

2,804 in the last 10 years · high confidence · 91.7th percentile (publications denominator)

Phrase hits: 4,553 · MeSH hits: 97

Open Europe PMC search

Who's working on it?

1,039

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
    Finsterer J4 papers · 2026

    Department of Neurology and Neurophysiology Center, Vienna, Austria.

    Papers in Europe PMC
  2. 02
    Kuwabara S4 papers · 2026

    Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.

    Papers in Europe PMC
  3. 03
    Chen X3 papers · 2026

    Department of Neurology, West China Hospital, Sichuan University, No. 37 Guoxue Road, Chengdu, Sichuan 610041, China.

    Papers in Europe PMC
  4. 04
    Li C3 papers · 2026

    Center for Rehabilitation Medicine, Department of Neurology, Zhejiang Provincial People's hospital (Affiliated People's Hospital, Hangzhou Medical College), No.159 Shangtang Road, Hangzhou, China.

    Papers in Europe PMC
  5. 05
    Li Y3 papers · 2026

    Department of Neurology, Chengdu Second People's Hospital, Affiliated Hospital of Chengdu Medical College, Chengdu, Sichuan, China.

    Papers in Europe PMC
  6. 06
    Xie S3 papers · 2026

    Department of Pharmacy, The Second Affiliated Hospital of Guangxi Medical University, Nanning, China.

    Papers in Europe PMC
  7. 07
    Acerra GM2 papers · 2024

    Neurology Unit, University Hospital "San Giovanni di Dio e Ruggi d'Aragona", University of Salerno, Salerno, Italy.

    Papers in Europe PMC
  8. 08
    Alpsten E2 papers · 2026

    Department of Clinical Neuroscience, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  9. 09
    Antonini G2 papers · 2026

    Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Arends S2 papers · 2026

    Department of Neurology/Clinical Neurophysiology, HagaZiekenhuis, The Hague, the Netherlands.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-30

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 Miller Fisher syndrome — 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.

"Miller Fisher syndrome" OR "Cranial variant of GBS" OR "Cranial variant of the GBS" OR "Cranial variant of Guillain-Barré syndrome" OR "Cranial variant of the Guillain-Barré syndrome" OR "Fisher syndrome" OR "Guillain Barre syndrome, Miller Fisher variant" OR "Guillain-Barre syndrome, Miller Fisher variant" OR "Miller Fisher variant of Guillain Barre syndrome" OR "Miller Fisher variant of the Guillain Barre syndrome" OR "Miller-Fisher syndrome" OR "cranial variant of Guillain-Barre syndrome" OR "cranial variant of the Guillain-Barre syndrome" OR "ophthalmoplegia, ataxia and areflexia syndrome" OR "syndrome, Fisher" OR "syndrome, Miller Fisher" OR "syndrome, Miller-Fisher"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Miller Fisher Syndrome

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

"Miller Fisher syndrome" OR "Cranial variant of GBS" OR "Cranial variant of the GBS" OR "Cranial variant of Guillain-Barré syndrome" OR "Cranial variant of the Guillain-Barré syndrome" OR "Fisher syndrome" OR "Guillain Barre syndrome, Miller Fisher variant" OR "Guillain-Barre syndrome, Miller Fisher variant" OR "Miller Fisher variant of Guillain Barre syndrome" OR "Miller Fisher variant of the Guillain Barre syndrome" OR "Miller-Fisher syndrome" OR "cranial variant of Guillain-Barre syndrome" OR "cranial variant of the Guillain-Barre syndrome" OR "ophthalmoplegia, ataxia and areflexia syndrome" OR "syndrome, Fisher" OR "syndrome, Miller Fisher" OR "syndrome, Miller-Fisher"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-27T05:43:57.002Z