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ORPHA:98757

Spinocerebellar ataxia type 3

medium confidenceDisorder

Also known as: Azorean disease of the nervous system · MJD · Machado disease · Machado-Joseph disease · Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia · SCA3

Publications

5,745

92.7th percentile

Trials

21

Interventional, condition-specific

Researchers

1,066

Distinct authors in sample

Gene link

ATXN3

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 3 (SCA3), also known as Machado-Joseph disease, is the most common subtype of type 1 cerebellar (ADCA type 1), a neurodegenerative disorder, and is characterized by , external ophthalmoplegia, and other neurological manifestations.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

autosomal dominant striatonigral degeneration · spinocerebellar ataxia 3 · spinocerebellar ataxia type 3

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — ATXN3

  2. LiteraturePresent

    5,745 matched papers (3,303 in last 10 years) Source

  3. Phenotype characterisedPresent

    159 HPO annotations (e.g. Vocal cord paralysis; Dysarthria; Abnormality of extrapyramidal motor function) Source

  4. Animal modelPresent

    19 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. trehalose Source

  6. Interventional trialPresent

    21 matched on ClinicalTrials.gov (2 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 (ATXN3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

159

Associated phenotypes · MONDO:0007182

  • Vocal cord paralysis
  • Dysarthria
  • Abnormality of extrapyramidal motor function
  • Skeletal muscle atrophy
  • Abnormal vestibular function

Showing 5 of 159 — open Monarch for the full list.

Animal models (Monarch / Alliance)

19

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA trehaloseCerebellar Ataxia SCA3 · 2014-11-17 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0007182

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,745

5,745 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.

5,745 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).

3,303 in the last 10 years · medium confidence · 92.7th percentile (publications denominator)

Phrase hits: 4,448 · MeSH hits: 65

Open Europe PMC search

Who's working on it?

1,066

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
    Liu C21 papers · 2026

    7T Magnetic Resonance Translational Medicine Research Center, Department of Radiology, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.

    Papers in Europe PMC
  2. 02
    Lin W19 papers · 2026

    Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.

    Papers in Europe PMC
  3. 03
    Lima M18 papers · 2026

    Faculdade de Ciências e Tecnologia, Universidade dos Açores, Ponta Delgada, Portugal.

    Papers in Europe PMC
  4. 04
    Faber J16 papers · 2026

    German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

    Papers in Europe PMC
  5. 05
    Gan SR16 papers · 2026

    Department of Neurology and Institute of Neurology of First Affiliated Hospital, Institute of Neuroscience and Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China. ganshirui@fjmu.edu.cn.

    Papers in Europe PMC
  6. 06
    Klockgether T16 papers · 2026

    German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Raposo M16 papers · 2026

    Instituto de Biologia Molecular e Celular (IBMC), Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, Porto, Portugal.

    Papers in Europe PMC
  8. 08
    Garcia-Moreno H14 papers · 2026

    Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Ataxia Centre, University College London, London WC1N 3BG, UK.

    Papers in Europe PMC
  9. 09
    Giunti P14 papers · 2026

    Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Ataxia Centre, University College London, London WC1N 3BG, UK.

    Papers in Europe PMC
  10. 10
    Santana MM14 papers · 2026

    Center for Neuroscience and Cell Biology, University of Coimbra (CNC-UC), Coimbra, Portugal.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

21

interventional trials for this specific condition

21 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

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

21 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95th percentile).

medium confidence · 95th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

8 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 3 — 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 3" OR "Azorean disease of the nervous system" OR "Azorean disease of nervous system" OR "Machado disease" OR "Machado-Joseph disease" OR "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" OR "autosomal dominant striatonigral degeneration" OR "spinocerebellar ataxia 3") OR (MESH:"Machado-Joseph Disease") OR ("ATXN3" OR "ATXN3 syndrome" OR "ATXN3-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Machado-Joseph Disease

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

"Spinocerebellar ataxia type 3" OR "Azorean disease of the nervous system" OR "Azorean disease of nervous system" OR "Machado disease" OR "Machado-Joseph disease" OR "Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia" OR "autosomal dominant striatonigral degeneration" OR "spinocerebellar ataxia 3"

Interventional trials matched via: both, 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: 21 interventional · 8 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MJD; SCA3

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:20:33.744Z