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ORPHA:64753

Spinocerebellar ataxia with axonal neuropathy type 2

medium confidenceDisorder

Also known as: AOA2 · Ataxia-oculomotor apraxia type 2 · SCAN 2 · SCAR1

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

9,598

95.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,396

Distinct authors in sample

Gene link

SETX

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — SETX

  2. LiteraturePresent

    9,598 matched papers (6,520 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Ataxia; Gaze-evoked nystagmus; Oculomotor apraxia) 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 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)

57

Associated phenotypes · MONDO:0018996

  • Ataxia
  • Gaze-evoked nystagmus
  • Oculomotor apraxia
  • Saccadic smooth pursuit interruptions
  • Gait imbalance

Showing 5 of 57 — 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?

9,598

9,598 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.

9,598 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).

6,520 in the last 10 years · medium confidence · 95.8th percentile (publications denominator)

Phrase hits: 7,963 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Fogel 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
  2. 02
    Bennett CL3 papers · 2021

    Department of Neurology, Duke University School of Medicine, Durham, NC, USA.

    Papers in Europe PMC
  3. 03
    Chen S3 papers · 2026

    Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.

    Papers in Europe PMC
  4. 04
    Houlden H3 papers · 2023

    Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

    Papers in Europe PMC
  5. 05
    La Spada AR3 papers · 2021

    Department of Neurology, Duke University School of Medicine, Durham, NC, USA. al.laspada@duke.edu.

    Papers in Europe PMC
  6. 06
    Li W3 papers · 2026

    Graduate School, Space Engineering University, Beijing 101416, China.

    Papers in Europe PMC
  7. 07
    Liu J3 papers · 2025

    School of Basic Medicine Sciences, Shandong Second Medical University, Weifang, 261053, China. liujiao@sdsmu.edu.cn.

    Papers in Europe PMC
  8. 08
    Liu Y3 papers · 2026

    Graduate School, Space Engineering University, Beijing 101416, China.

    Papers in Europe PMC
  9. 09
    Miller MB3 papers · 2025

    Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

    Papers in Europe PMC
  10. 10
    Naz 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 11 September 2026 · last trial check 11 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.

medium 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.

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.

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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · 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 (42)

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 with axonal neuropathy type 2 — 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 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 (MESH:"Spinocerebellar ataxia, autosomal recessive 1") OR ("SETX" OR "SETX syndrome" OR "SETX-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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