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ORPHA:101110

Spinocerebellar ataxia type 20

medium confidenceDisorder

Also known as: SCA20

Publications

493

88.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,194

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 20 (SCA20) is a very rare subtype of type I cerebellar (ADCA type I). It is characterized by cerebellar dysarthria as the initial typical manifestation.

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 (1)

spinocerebellar ataxia type 20

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    493 matched papers (423 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

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?

493

493 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

493 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).

423 in the last 10 years · medium confidence · 88.7th percentile (publications denominator)

Phrase hits: 493 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,194

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Gil J10 papers · 2025

    Bioengineering Institute of Technology, Universitat Internacional de Catalunya, 08195 Sant Cugat del Vallés, Spain.

    Papers in Europe PMC
  2. 02
    Storey E5 papers · 2012

    Department of Medicine (Neurosciences), Alfred Hospital Campus of Monash University, Melbourne, Australia. elsdon.storey@med.monash.edu.au

    Papers in Europe PMC
  3. 03
    Forrest SM4 papers · 2008
    Papers in Europe PMC
  4. 04
    Gardner RJ4 papers · 2012
    Papers in Europe PMC
  5. 05
    Hariri H4 papers · 2024

    Department of Biological Sciences, Wayne State University, Detroit, MI.

    Papers in Europe PMC
  6. 06
    Knight MA4 papers · 2008

    Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  7. 07
    Henne M3 papers · 2024

    Department of Cell Biology, UT Southwestern Medical Center, Dallas, Texas, USA.

    Papers in Europe PMC
  8. 08
    Juszczak L3 papers · 2025

    Department of Food Analysis and Evaluation of Food Quality, University of Agriculture, ul. Balicka 122, 30-149 Kraków, Poland.

    Papers in Europe PMC
  9. 09
    Li J3 papers · 2026

    State Key Laboratory of Efficient Utilization of Arid and Semi-arid Arable Land in Northern China/Key Laboratory of Plant Nutrition and Fertilizer, Ministry of Agriculture and Rural Affairs/the Institute of Agricultural Resources and Regional Planning, Chinese Academy of Agricultural Sciences, Beijing 100081, China.

    Papers in Europe PMC
  10. 10
    Lin JH3 papers · 2024

    Laboratory of Fiber Application and Manufacturing, Department of Fiber and Composite Materials, Feng Chia University, Taichung 40724, Taiwan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

medium confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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

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.

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 2026-07-26

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 20" OR "SCA20"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar ataxia 20

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

"Spinocerebellar ataxia type 20" OR "SCA20" OR "Spinocerebellar ataxia 20" OR "autosomal dominant cerebellar ataxia type I" OR "autosomal dominant cerebellar ataxia"

Recall-expansion terms: autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia

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

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion

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
  • Publication count (493) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:20:26.443Z