ORPHA:423296
Spinocerebellar ataxia type 38
Also known as: SCA38
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
95
63.7th percentile
Trials
1
Interventional, condition-specific
Researchers
548
Distinct authors in sample
Gene link
ELOVL5
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014417
- OMIM:615957
- UMLS:C4518337
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — ELOVL5
- LiteraturePresent
95 matched papers (85 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 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)
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?
95
95 papers have ever been published on this condition (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=5449) is 41.
95 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).
85 in the last 10 years · high confidence · 63.7th percentile (publications denominator)
Phrase hits: 95 · MeSH hits: 0
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.
- 01Tempia F10 papers · 2025
Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
Papers in Europe PMC - 02Borroni B9 papers · 2024
Department of Neurology, University of Brescia, 25100 Brescia, Italy.
Papers in Europe PMC - 03Brusco 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 - 04Caruso D7 papers · 2023
Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
Papers in Europe PMC - 05Di 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 - 06Hoxha E7 papers · 2025
Neuroscience Institute Cavalieri Ottolenghi, University of Torino, 10043 Orbassano, Italy.
Papers in Europe PMC - 07Mitro N7 papers · 2023
Department of Pharmacological and Biomolecular Sciences, University of Milano, 20133 Milano, Italy.
Papers in Europe PMC - 08Costanzi C6 papers · 2023
Department of Neurology, University of Brescia, 25100 Brescia, Italy.
Papers in Europe PMC - 09Ferrero M5 papers · 2023
Department of Medical Sciences, University of Torino, 10126 Torino, Italy.
Papers in Europe PMC - 10Manes 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 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
high confidence · 76.8th 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.
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 type 38" OR "SCA38"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 38" OR "SCA38" OR "ELOVL5"
Recall-expansion terms: ELOVL5
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: suspect — strategies attempted: phrase, recall-expansion; 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 2026-07-27T15:51:10.993Z