RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:504476

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

low confidenceDisorder

Also known as: CABV syndrome · CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

22,435

Trials

3

Interventional, condition-specific

Researchers

1,510

Distinct authors in sample

Gene link

RFC1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare slowly syndromic cerebellar characterized by late-onset cerebellar dysfunction (including gait and limb , nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory . Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.

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 (11)

HSAN with cough and gastroesophageal reflux · HSAN1B · HSN1B · cerebellar ataxia with bilateral vestibulopathy syndrome · cerebellar ataxia, neuropathy, and vestibular areflexia syndrome · hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux · hereditary sensory and autonomic neuropathy type 1B · hereditary sensory and autonomic neuropathy type IB · hereditary sensory neuropathy type IB · neuropathy, hereditary sensory and autonomic, type 1B · neuropathy, hereditary sensory, type IB

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

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

  1. Gene identifiedPresent

    Definitive — RFC1

  2. LiteraturePresent

    22,435 matched papers (13,947 in last 10 years) Source

  3. Phenotype characterisedPresent

    41 HPO annotations (e.g. Dysmetria; Multiple joint contractures; Areflexia) 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

    3 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 (RFC1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

41

Associated phenotypes · MONDO:0044720

  • Dysmetria
  • Multiple joint contractures
  • Areflexia
  • Gait ataxia
  • Progressive cerebellar ataxia

Showing 5 of 41 — 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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

22,435

22,435 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

22,435 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).

13,947 in the last 10 years · low confidence

Phrase hits: 20,228 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,510

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
    Cortese A20 papers · 2026

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  2. 02
    Houlden H19 papers · 2026

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  3. 03
    Reilly MM15 papers · 2025

    Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  4. 04
    Dominik N10 papers · 2025

    Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

    Papers in Europe PMC
  5. 05
    Lockhart PJ10 papers · 2026

    Department of Neurology (D.A.S., D.W., Y.M., S.P., B.L.F.), Program in Neurogenetics, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology (D.W., B.L.F.), Clinical Neurogenomics Research Center, David Geffen School of Medicine, University of California, Los Angeles; Department of Human Genetics (S.A., M.S., S.D.), University of Chicago, IL; Department of Neurology (C.M.D.G., V.K.), Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Department of Neurology (G.G., C.M.G.), University of Chicago, IL; Bruce Lefroy Centre (P.J.L.), Murdoch Children's Research Institute; Department of Paediatrics (P.J.L.), University of Melbourne, Parkville, Australia; Sackler Faculty of Medicine (S.H.-B.), Tel-Aviv University, Tel-Aviv, Israel; and Department of Human Genetics (B.L.F.), David Geffen School of Medicine, University of California, Los Angeles.

    Papers in Europe PMC
  6. 06
    Synofzik M8 papers · 2026

    Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC
  7. 07
    Currò R7 papers · 2026

    Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, United Kingdom; and.

    Papers in Europe PMC
  8. 08
    Strupp M7 papers · 2026

    Department of Neurology and German Center for Vertigo and Balance Disorders, University Hospital, Ludwig-Maximilians University, Munich, Germany.

    Papers in Europe PMC
  9. 09
    Sullivan R6 papers · 2024

    Department of Neuromuscular Disease, University College London.

    Papers in Europe PMC
  10. 10
    Traschütz A6 papers · 2026

    Research Division "Translational Genomics of Neurodegenerative Diseases", Hertie- Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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 (5)

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 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia 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.

("Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" OR "CABV syndrome" OR "CANVAS" OR "Cerebellar ataxia with bilateral vestibulopathy syndrome" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "HSN1B" OR "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" OR "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "hereditary sensory and autonomic neuropathy type 1B" OR "hereditary sensory and autonomic neuropathy type IB" OR "hereditary sensory neuropathy type IB" OR "neuropathy, hereditary sensory and autonomic, type 1B" OR "neuropathy, hereditary sensory, type IB") OR (MESH:"Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux") OR ("RFC1" OR "RFC1 syndrome" OR "RFC1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux

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

"Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome" OR "CABV syndrome" OR "CANVAS" OR "Cerebellar ataxia with bilateral vestibulopathy syndrome" OR "HSAN with cough and gastroesophageal reflux" OR "HSAN1B" OR "HSN1B" OR "cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" OR "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" OR "hereditary sensory and autonomic neuropathy type 1B" OR "hereditary sensory and autonomic neuropathy type IB" OR "hereditary sensory neuropathy type IB" OR "neuropathy, hereditary sensory and autonomic, type 1B" OR "neuropathy, hereditary sensory, type IB" OR "Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux"

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

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "HSAN with cough and gastroesophageal reflux" also appears on ORPHA:139564
  • "HSAN1B" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type 1B" also appears on ORPHA:139564
  • "hereditary sensory and autonomic neuropathy type IB" also appears on ORPHA:139564
  • Publication count (22435) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:46:58.650Z