RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98758

Spinocerebellar ataxia type 6

medium confidenceDisorder

Also known as: SCA6

Publications

5,304

92.9th percentile

Trials

8

Interventional, condition-specific

Researchers

1,155

Distinct authors in sample

Gene link

CACNA1A

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

An cerebellar type III that is characterized by late-onset and slowly gait and other cerebellar signs such as impaired muscle coordination and nystagmus.

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 (3)

CACNA1A autosomal dominant cerebellar ataxia type III · autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A · spinocerebellar ataxia type 6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — CACNA1A

  2. LiteraturePresent

    5,304 matched papers (3,371 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Progressive cerebellar ataxia; Incoordination; Hyperreflexia) Source

  4. Animal modelPresent

    3 genotype models (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 trialPresent

    8 matched on ClinicalTrials.gov (4 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 (CACNA1A).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0008457

  • Progressive cerebellar ataxia
  • Incoordination
  • Hyperreflexia
  • Nystagmus
  • Intention tremor

Showing 5 of 40 — 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)

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

1

Drugs / clinical candidates · MONDO_0008457

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,304

5,304 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.

5,304 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).

3,371 in the last 10 years · medium confidence · 92.9th percentile (publications denominator)

Phrase hits: 848 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,155

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
    Giunti P8 papers · 2026

    Laboratory of Neurogenetics, Department of Molecular Neuroscience, UCL Institute of Neurology London, UK.

    Papers in Europe PMC
  2. 02
    Takahashi Y8 papers · 2026

    Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Timmann D8 papers · 2025

    1 Department of Neurology, University of Duisburg-Essen, Essen, Germany.

    Papers in Europe PMC
  4. 04
    Watt AJ8 papers · 2025

    Biology Department, McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  5. 05
    Boesch S7 papers · 2025

    3 Department of Neurology, Medical University of Innsbruck , Innsbruck, Austria .

    Papers in Europe PMC
  6. 06
    Cook AA6 papers · 2024

    Biology Department, McGill University, Montreal, QC, Canada.

    Papers in Europe PMC
  7. 07
    Gomez CM6 papers · 2024

    Department of Neurology, University of Chicago, Chicago, IL, USA. cgomez@neurology.bsd.uchicago.edu.

    Papers in Europe PMC
  8. 08
    Ishikawa K6 papers · 2024

    Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Pedroso JL6 papers · 2025

    Hospital Israelita Albert Einstein, Sao Paulo, Brazil; Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: zeluizpedroso@yahoo.com.br.

    Papers in Europe PMC
  10. 10
    Indelicato E5 papers · 2025

    Department of Neurology, Innsbruck Medical University, Innsbruck, Austria.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

8

interventional trials for this specific condition

8 interventional trials matched this specific condition name; 4 currently recruiting in our sample.

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

8 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 91.5th percentile).

medium confidence · 91.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 observational studies match 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

General rare disease registries you may be eligible for

These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.

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 Spinocerebellar ataxia 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.

("Spinocerebellar ataxia type 6" OR "CACNA1A autosomal dominant cerebellar ataxia type III" OR "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A") OR ("CACNA1A" OR "CACNA1A syndrome" OR "CACNA1A-related")

Run this search on Europe PMC

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

"Spinocerebellar ataxia type 6" OR "CACNA1A autosomal dominant cerebellar ataxia type III" OR "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: SCA6

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 2026-07-27T05:20:44.586Z