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ORPHA:98769

Spinocerebellar ataxia type 15/16

low confidenceDisorder

Also known as: SCA15/16

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

Publications

4,007

Trials

0

Interventional, condition-specific

Researchers

1,461

Distinct authors in sample

Gene link

ITPR1

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — ITPR1

  2. LiteraturePresent

    4,007 matched papers (2,623 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Head tremor; Upper limb postural tremor; Gait ataxia) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  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 (ITPR1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0011694

  • Head tremor
  • Upper limb postural tremor
  • Gait ataxia
  • Tremor by anatomical site
  • Action tremor

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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?

4,007

4,007 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.

4,007 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).

2,623 in the last 10 years · low confidence

Phrase hits: 247 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    De Michele G11 papers · 2023

    Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.

    Papers in Europe PMC
  2. 02
    Schisler JC11 papers · 2025

    McAllister Heart Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

    Papers in Europe PMC
  3. 03
    Synofzik 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
  4. 04
    Patterson 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
  5. 05
    Santorelli FM6 papers · 2023

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

    Papers in Europe PMC
  6. 06
    Zhang S6 papers · 2025

    Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.

    Papers in Europe PMC
  7. 07
    Durr 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
  8. 08
    Filla A5 papers · 2023

    Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.

    Papers in Europe PMC
  9. 09
    Galatolo D5 papers · 2023

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.

    Papers in Europe PMC
  10. 10
    Liu 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 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.

low 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 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 15/16 — 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 15/16" OR "SCA15/16" OR "SCAR16" OR "spinocerebellar ataxia type 15" OR "spinocerebellar ataxia type 16") OR (MESH:"Spinocerebellar Ataxia 15") OR ("ITPR1" OR "ITPR1 syndrome" OR "ITPR1-related")

Run this search on Europe PMC

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"

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

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
  • Publication count (4007) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:22:41.778Z