ORPHA:85297
X-linked spinocerebellar ataxia type 3
Also known as: SCAX3 · X-linked ataxia-deafness syndrome · X-linked ataxia-hearing loss syndrome
Clinical definition (Orphanet)
X-linked spinocerebellar type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of , , sensorineural deafness, , esotropia, and optic atrophy, and by a course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked trait.
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.
Is anyone studying this?
5
5 papers 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=183) is 38.
5 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
2 in the last 10 years · high confidence · 15.3th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
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.
Who's working on it?
36
Distinct author names in 5 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.
- 01Hirschi KD3 papers · 2025
Pediatrics-Nutrition, Children's Nutrition Research, Baylor College of Medicine, Houston, TX 77030, USA.
Papers in Europe PMC - 02Pittman JK2 papers · 2025
School of Natural Sciences, Faculty of Science and Engineering, The University of Manchester, Manchester M13 9PT, UK.
Papers in Europe PMC - 03Shigaki T2 papers · 2011Papers in Europe PMC
- 04Aguilar J1 paper · 2011Papers in Europe PMC
- 05Ames D1 paper · 2016
Bioinformatics Shared Resource, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, USA.
Papers in Europe PMC - 06Brini M1 paper · 2016
Department of Biology, University of Padova, Padova, Italy.
Papers in Europe PMC - 07Calì T1 paper · 2016
Department of Biomedical Sciences, University of Padova, Padova, Italy.
Papers in Europe PMC - 08Carafoli E1 paper · 2016
Venetian Institute of Molecular Medicine (VIMM), Padova, Italy.
Papers in Europe PMC - 09Carneiro F1 paper · 2017
Centro de Investigação e de Tecnologias Agro-ambientais e Biológicas, CITAB-UMinho Pole, Departamento de Biologia, Escola de Ciências, Universidade do Minho, Braga, Portugal.
Papers in Europe PMC - 10Conde C1 paper · 2017
i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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.
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 below but are not added to the query string.
"X-linked spinocerebellar ataxia type 3" OR "SCAX3" OR "X-linked ataxia-deafness syndrome" OR "X-linked ataxia-hearing loss syndrome" OR "spinocerebellar ataxia, X-linked type 3"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, X-linked, 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked spinocerebellar ataxia type 3" OR "SCAX3" OR "X-linked ataxia-deafness syndrome" OR "X-linked ataxia-hearing loss syndrome" OR "spinocerebellar ataxia, X-linked type 3" OR "Spinocerebellar ataxia, X-linked, 3" OR "X-linked cerebellar ataxia" OR "hereditary cerebellar ataxia"
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.
Cross-references (from Mondo): MESH:C537315 OMIM:301790 UMLS:C1844936
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