ORPHA:98758
Spinocerebellar ataxia type 6
Also known as: SCA6
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
848
87.4th percentile
Trials
8
Interventional, condition-specific
Researchers
1,155
Distinct authors in sample
Gene link
CACNA1A
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008457
- OMIM:183086
- UMLS:C0752124
- NCIT:C142838
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — CACNA1A
- LiteraturePresent
848 matched papers (375 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
848
848 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=5449) is 41.
848 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
375 in the last 10 years · medium confidence · 87.4th percentile (publications denominator)
Phrase hits: 848 · MeSH hits: 0
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.
- 01Giunti P8 papers · 2026
Laboratory of Neurogenetics, Department of Molecular Neuroscience, UCL Institute of Neurology London, UK.
Papers in Europe PMC - 02Takahashi Y8 papers · 2026
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Papers in Europe PMC - 03Timmann D8 papers · 2025
1 Department of Neurology, University of Duisburg-Essen, Essen, Germany.
Papers in Europe PMC - 04Watt AJ8 papers · 2025
Biology Department, McGill University, Montreal, QC, Canada.
Papers in Europe PMC - 05Boesch S7 papers · 2025
3 Department of Neurology, Medical University of Innsbruck , Innsbruck, Austria .
Papers in Europe PMC - 06Cook AA6 papers · 2024
Biology Department, McGill University, Montreal, QC, Canada.
Papers in Europe PMC - 07Gomez CM6 papers · 2024
Department of Neurology, University of Chicago, Chicago, IL, USA. cgomez@neurology.bsd.uchicago.edu.
Papers in Europe PMC - 08Ishikawa K6 papers · 2024
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan.
Papers in Europe PMC - 09Pedroso 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 - 10Indelicato 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 27 July 2026
8 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 90.6th percentile).
medium confidence · 90.6th 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.
- NCT03378414·NOT YET RECRUITING·Umbilical Cord Mesenchymal Stem Cells Therapy (19#iSCLife®-SA) for Patients With Spinocerebellar Ataxia
Conditions: Spinocerebellar Ataxia Type 1 · Spinocerebellar Ataxia Type 2 · Spinocerebellar Ataxia Type 3 · Spinocerebellar Ataxia Type 6·Matched via name phrase
- NCT07221292·NOT YET RECRUITING·Pivotal Study of N-acetyl-L-leucine for CACNA1A
Conditions: CACNA1A · Spinocerebellar Ataxia Type 6 · Episodic Ataxia Type 2 · Familial Hemiplegic Migraine-1·Matched via name phrase
- NCT07325487·RECRUITING·Interposed Nucleus aDBS for Ataxia
Conditions: Spinocerebellar Ataxia (SCA) · Spinocerebellar Ataxia Type 6·Matched via name phrase
- NCT07288437·RECRUITING·Deep Brain Stimulation for Spinocerebellar Ataxia
Conditions: Spinocerebellar Ataxia (SCA) · Spinocerebellar Ataxia Type 6·Matched via name phrase
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.
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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" OR "CACNA1A"
Recall-expansion terms: 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: suspect — strategies attempted: phrase, recall-expansion; 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