RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98760

Spinocerebellar ataxia type 8

medium confidenceDisorder

Also known as: SCA8

Publications

770

82.6th percentile

Trials

2

Interventional, condition-specific

Researchers

1,010

Distinct authors in sample

Gene link

ATXN8, ATXN8OS

Moderate

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 8 (SCA8) is a subtype of type I cerebellar (ADCA type I) characterized by cerebellar and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients.

How rare: How common this is has not been clearly measured.

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 8

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

    Moderate — ATXN8, ATXN8OS

  2. LiteraturePresent

    770 matched papers (469 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Nystagmus; Spasticity; Dystonia) 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

    2 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?

Probably — there is moderate evidence for ATXN8, ATXN8OS.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0012116

  • Nystagmus
  • Spasticity
  • Dystonia
  • Hyperreflexia
  • Rigidity

Showing 5 of 38 — 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?

770

770 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.

770 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).

469 in the last 10 years · medium confidence · 82.6th percentile (publications denominator)

Phrase hits: 366 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,010

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
    Ranum LP19 papers · 2026

    Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA; Department of Neurology, University of Florida, Gainesville, FL 32610, USA; Genetics Institute, University of Florida, Gainesville, FL 32610, USA. Electronic address: ranum@ufl.edu.

    Papers in Europe PMC
  2. 02
    Cleary JD7 papers · 2026

    The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.

    Papers in Europe PMC
  3. 03
    Ikeda Y7 papers · 2021

    Department of Neurology, Gunma University School of Medicine, Maebashi, Japan. yikeda@akagi.sb.gunma-u.ac.jp

    Papers in Europe PMC
  4. 04
    Ranum LPW7 papers · 2025

    Center for NeuroGenetics, College of Medicine, University of Florida, USA; Department of Molecular Genetics and Microbiology, College of Medicine, University of Florida, USA; Genetics Institute, University of Florida, USA; McKnight Brain Institute, University of Florida, USA; Norman Fixel Institute for Neurological Diseases, University of Florida, USA. Electronic address: ranum@ufl.edu.

    Papers in Europe PMC
  5. 05
    Zu T7 papers · 2021

    Center for NeuroGenetics, University of Florida, Gainesville, FL 32610, USA; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL 32610, USA.

    Papers in Europe PMC
  6. 06
    Ashizawa T6 papers · 2021

    Department of Neurology, Houston Methodist Research Institute, Houston, Texas, United States of America.

    Papers in Europe PMC
  7. 07
    Todd PK6 papers · 2026

    Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA. petertod@med.umich.edu

    Papers in Europe PMC
  8. 08
    Day JW5 papers · 2012

    Departments of Neurology and Genetics, University of Minnesota, Minneapolis, USA.

    Papers in Europe PMC
  9. 09
    Ebner TJ5 papers · 2025

    Department of Neuroscience, University of Minnesota, 2001 Sixth Street SE, Minneapolis, MN 55455, USA. ebner001@umn.edu

    Papers in Europe PMC
  10. 10
    Hirano M5 papers · 2026

    Department of Neurology (M.H., M.S., K.S., and S.K.), Kindai University Faculty of Medicine, Osakasayama, Japan; and Department of Neurology (M.H., C.I., and Y.N.), Kindai University Sakai Hospital, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting.

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

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

medium confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 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.

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 8 — 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 8") OR ("ATXN8" OR "ATXN8 syndrome" OR "ATXN8-related" OR "ATXN8OS" OR "ATXN8OS syndrome" OR "ATXN8OS-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 8"

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: 2 interventional · 0 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: SCA8

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 2026-07-27T05:21:12.396Z