ORPHA:98769
Spinocerebellar ataxia type 15/16
Also known as: SCA15/16
Publications
247
77.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,461
Distinct authors in sample
Gene link
ITPR1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 15/16 (SCA15/16) is a rare subtype of type I cerebellar (ADCA type I). It is characterized by cerebellar , tremor and cognitive impairment.
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:0011694
- MeSH:C564685
- OMIM:606658
- UMLS:C1847725
- NCIT:C150250
Additional Mondo synonyms (4)
SCAR16 · spinocerebellar ataxia type 15 · spinocerebellar ataxia type 15/16 · spinocerebellar ataxia type 16
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
Strong — ITPR1
- LiteraturePresent
247 matched papers (185 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 (ITPR1).
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?
247
247 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.
247 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).
185 in the last 10 years · medium confidence · 77.5th percentile (publications denominator)
Phrase hits: 247 · MeSH hits: 0
Who's working on it?
1,461
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.
- 01De Michele G11 papers · 2023
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
Papers in Europe PMC - 02Schisler JC11 papers · 2025
McAllister Heart Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Papers in Europe PMC - 03Synofzik M8 papers · 2025
Department of Neurology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler-Str. 3, D 72076 Tübingen, Germany.
Papers in Europe PMC - 04Patterson C6 papers · 2019
The Office of the Chancellor, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. CPatters@uams.edu.
Papers in Europe PMC - 05Santorelli FM6 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 06Zhang S6 papers · 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Papers in Europe PMC - 07Durr A5 papers · 2023
Maladies Neurodégénératives, Institut du Cerveau et de la Moëlle Epinière, CHU Paris-GH La Pitié Salpêtrière-Charles Foix, Hôpital Pitié-Salpêtrière, 75013 Paris, France.
Papers in Europe PMC - 08Filla A5 papers · 2023
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
Papers in Europe PMC - 09Galatolo D5 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 10Liu Y5 papers · 2021
Biologics Drug Discovery, Biotherapeutics and Medicinal Sciences, Biogen, Cambridge, MA 02142.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 type 15/16" OR "SCA15/16" OR "SCAR16" OR "spinocerebellar ataxia type 15" OR "spinocerebellar ataxia type 16"
MeSH descriptor terms unioned into the query: Spinocerebellar Ataxia 15
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 15/16" OR "SCA15/16" OR "SCAR16" OR "spinocerebellar ataxia type 15" OR "spinocerebellar ataxia type 16" OR "Spinocerebellar Ataxia 15" OR "ITPR1" OR "autosomal dominant cerebellar ataxia type I" OR "autosomal dominant cerebellar ataxia"
Recall-expansion terms: ITPR1, autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- "SCAR16" also appears on ORPHA:412057
- "spinocerebellar ataxia type 16" also appears on ORPHA:98770
Ingested 2026-07-27T05:22:41.778Z