ORPHA:64753
Spinocerebellar ataxia with axonal neuropathy type 2
Also known as: AOA2 · Ataxia-oculomotor apraxia type 2 · SCAN 2 · SCAR1
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
7,963
97.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,396
Distinct authors in sample
Gene link
SETX
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare cerebellar (ARCA), characterized by cerebellar associated with frequent oculomotor apraxia, severe and an elevated serum alpha-fetoprotein (AFP) level.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018996
- MeSH:C537308
- OMIM:606002
- UMLS:C1853761
- NCIT:C165500
Additional Mondo synonyms (8)
SCAN2 · ataxia with oculomotor apraxia type 2 · ataxia-ocular apraxia 2 · ataxia-oculomotor apraxia 2 · ataxia-oculomotor apraxia type 2 · spinocerebellar ataxia with axonal neuropathy type 2 · spinocerebellar ataxia, autosomal recessive 1 · spinocerebellar ataxia, autosomal recessive type 1
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SETX
- LiteraturePresent
7,963 matched papers (5,257 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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?
Yes — we know a specific gene responsible (SETX).
GenCC classification: Definitive.
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?
7,963
7,963 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=5449) is 41.
7,963 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).
5,257 in the last 10 years · medium confidence · 97.7th percentile (publications denominator)
Phrase hits: 7,963 · MeSH hits: 0
Who's working on it?
1,396
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.
- 01Fogel BL6 papers · 2025
Department of Neurology, UCLA Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles (UCLA), Los Angeles, CA, USA.
Papers in Europe PMC - 02Bennett CL3 papers · 2021
Department of Neurology, Duke University School of Medicine, Durham, NC, USA.
Papers in Europe PMC - 03Chen S3 papers · 2026
Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.
Papers in Europe PMC - 04Houlden H3 papers · 2023
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 05La Spada AR3 papers · 2021
Department of Neurology, Duke University School of Medicine, Durham, NC, USA. al.laspada@duke.edu.
Papers in Europe PMC - 06Li W3 papers · 2026
Graduate School, Space Engineering University, Beijing 101416, China.
Papers in Europe PMC - 07Liu J3 papers · 2025
School of Basic Medicine Sciences, Shandong Second Medical University, Weifang, 261053, China. liujiao@sdsmu.edu.cn.
Papers in Europe PMC - 08Liu Y3 papers · 2026
Graduate School, Space Engineering University, Beijing 101416, China.
Papers in Europe PMC - 09Miller MB3 papers · 2025
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Papers in Europe PMC - 10Naz S3 papers · 2026
School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Electronic address: naz.sbs@pu.edu.pk.
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).
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.
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
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 on the overview but are not added to the query string.
"Spinocerebellar ataxia with axonal neuropathy type 2" OR "Ataxia-oculomotor apraxia type 2" OR "SCAN 2" OR "SCAR1" OR "SCAN2" OR "ataxia with oculomotor apraxia type 2" OR "ataxia-ocular apraxia 2" OR "ataxia-oculomotor apraxia 2" OR "spinocerebellar ataxia, autosomal recessive 1" OR "spinocerebellar ataxia, autosomal recessive type 1"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia, autosomal recessive 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia with axonal neuropathy type 2" OR "Ataxia-oculomotor apraxia type 2" OR "SCAN 2" OR "SCAR1" OR "SCAN2" OR "ataxia with oculomotor apraxia type 2" OR "ataxia-ocular apraxia 2" OR "ataxia-oculomotor apraxia 2" OR "spinocerebellar ataxia, autosomal recessive 1" OR "spinocerebellar ataxia, autosomal recessive type 1" OR "SETX"
Recall-expansion terms: SETX
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AOA2
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 2026-07-27T01:14:54.345Z