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ORPHA:423296

Spinocerebellar ataxia type 38

low confidenceDisorder

Also known as: SCA38

Publications

2,481

Trials

1

Interventional, condition-specific

Researchers

548

Distinct authors in sample

Gene link

ELOVL5

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 38 (SCA38) is a subtype of cerebellar type 3 characterized by the adult-onset (average age: 40 years) of truncal , gait disturbance and gaze-evoked nystagmus. The disease is slowly with dysarthria and limb following. Additional manifestations include diplopia and axonal .

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

spinocerebellar ataxia type 38

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — ELOVL5

  2. LiteraturePresent

    2,481 matched papers (1,952 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Peripheral axonal neuropathy; Dysarthria; Gait ataxia) 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 trialPresent

    1 matched on ClinicalTrials.gov

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 (ELOVL5).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

23

Associated phenotypes · MONDO:0014417

  • Peripheral axonal neuropathy
  • Dysarthria
  • Gait ataxia
  • Ataxia
  • Distal muscle weakness

Showing 5 of 23 — 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?

2,481

2,481 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,481 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).

1,952 in the last 10 years · low confidence

Phrase hits: 95 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

548

Distinct author names in 95 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
    Tempia F10 papers · 2025

    Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.

    Papers in Europe PMC
  2. 02
    Borroni B9 papers · 2024

    Department of Neurology, University of Brescia, 25100 Brescia, Italy.

    Papers in Europe PMC
  3. 03
    Brusco A9 papers · 2025

    Department of Medical Sciences, University of Torino, 10126 Torino, Italy; Medical Genetics Unit, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy. Electronic address: alfredo.brusco@unito.it.

    Papers in Europe PMC
  4. 04
    Caruso D7 papers · 2023

    Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.

    Papers in Europe PMC
  5. 05
    Di Gregorio E7 papers · 2023

    Department of Medical Sciences, University of Torino, 10126 Torino, Italy; Medical Genetics Unit, Azienda Ospedaliera Universitaria Città della Salute e della Scienza, 10126 Torino, Italy.

    Papers in Europe PMC
  6. 06
    Hoxha E7 papers · 2025

    Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.

    Papers in Europe PMC
  7. 07
    Mitro N7 papers · 2023

    Department of Pharmacological and Biomolecular Sciences, University of Milano, 20133 Milano, Italy.

    Papers in Europe PMC
  8. 08
    Costanzi C6 papers · 2023

    Department of Neurology, University of Brescia, 25100 Brescia, Italy.

    Papers in Europe PMC
  9. 09
    Ferrero M5 papers · 2023

    Department of Medical Sciences, University of Torino, 10126 Torino, Italy.

    Papers in Europe PMC
  10. 10
    Manes M5 papers · 2023

    Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

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

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

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

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 38 — 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 38" OR "SCA38") OR ("ELOVL5" OR "ELOVL5 syndrome" OR "ELOVL5-related")

Run this search on Europe PMC

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

"Spinocerebellar ataxia type 38" OR "SCA38"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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
  • Publication count (2481) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:51:10.993Z