ORPHA:276244
Machado-Joseph disease type 3
Also known as: SCA3, Machado type · Spinocerebellar ataxia type 3, Machado type
Publications
1
8th percentile
Trials
0
Interventional, condition-specific
Researchers
4
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017176
- UMLS:C0751670
Additional Mondo synonyms (2)
azorean disease, type iii · spinocerebellar ataxia type 3, Machado type
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
38 HPO annotations (e.g. Abnormal pyramidal sign; Vocal cord paralysis; Sleep disturbance) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 4 for broader category Machado-Joseph disease
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)
38
Associated phenotypes · MONDO:0017176
- Abnormal pyramidal sign
- Vocal cord paralysis
- Sleep disturbance
- Muscle spasm
- Peripheral axonal neuropathy
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 2026-07-27
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?
1
1 paper have ever been indexed 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=3967) is 59.
1 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).
1 in the last 10 years · high confidence · 8th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
4
Distinct author names in 1 sampled paper — 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.
- 01Baltzan M1 paper · 2020
Faculty of Medicine, Department of Epidemiology Biostatistics and Occupational Health, McGill University, Montréal, Canada.
Papers in Europe PMC - 02Postuma R1 paper · 2020
Research Institute of McGill University Health Centre, Montréal, Canada.
Papers in Europe PMC - 03Rizzo D1 paper · 2020
Faculty of Medicine, Department of Family Medicine, McGill University, Montréal, Canada.
Papers in Europe PMC - 04Yao C1 paper · 2020
Integrated Program in Neuroscience, McGill University, Montréal, Canada.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for Machado-Joseph disease, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
4 interventional trials matched Machado-Joseph disease, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Machado-Joseph disease
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 2 · uncertain 0 · dropped 0 · fetched 2026-07-27
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).
Broader / parent-category hits (2)
- ctis·2024-514328-18-00·Authorised, ongoing·A phase 1/2a, open-label trial to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of multiple ascending doses of intrathecally administered VO659 in participants with spinocerebellar ataxia types 1, 3 and Huntington’s disease
Parent category — Both providers judged relevant only to a broader parent category.
- ctis·2022-501004-10-00·Cancelled·A DOUBLE-BLIND, RANDOMIZED, PLACEBO CONTROLLED TRIAL TO ASSESS SAFETY AND EFFICACY OF SLS-005 (TREHALOSE INJECTION, 90.5 MG/ML FOR INTRAVENOUS INFUSION) FOR THE TREATMENT OF ADULTS WITH SPINOCEREBELLAR ATAXIA
Parent category — Both providers judged relevant only to a broader parent category.
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 Machado-Joseph disease type 3 — check Associations / patient organisations on that page.
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.
"Machado-Joseph disease type 3" OR "SCA3, Machado type" OR "Spinocerebellar ataxia type 3, Machado type" OR "azorean disease, type iii"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Machado-Joseph disease type 3" OR "SCA3, Machado type" OR "Spinocerebellar ataxia type 3, Machado type" OR "azorean disease, type iii"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Machado-Joseph disease"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-26T01:59:12.140Z