ORPHA:412057
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Also known as: SCAR16 · Spinocerebellar ataxia autosomal recessive type 16
Publications
2,797
Trials
0
Interventional, condition-specific
Researchers
1,026
Distinct authors in sample
Gene link
STUB1
Strong
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
A rare characterized by truncal and limb resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory , cognitive impairment and accelerated ageing have also been associated.
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:0014339
- OMIM:615768
- UMLS:C5190574
Additional Mondo synonyms (6)
STUB1 autosomal recessive cerebellar ataxia · autosomal recessive cerebellar ataxia caused by mutation in STUB1 · autosomal recessive spinocerebellar ataxia 16 · autosomal recessive spinocerebellar ataxia type 16 · spinocerebellar ataxia autosomal recessive type 16 · spinocerebellar ataxia, autosomal recessive 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.”
5/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — STUB1
- LiteraturePresent
2,797 matched papers (2,180 in last 10 years) Source
- Phenotype characterisedPresent
69 HPO annotations (e.g. Alopecia; Abnormal sella turcica morphology; Type II diabetes mellitus) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 2 for broader category autosomal recessive cerebellar ataxia
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 (STUB1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
69
Associated phenotypes · MONDO:0014339
- Alopecia
- Abnormal sella turcica morphology
- Type II diabetes mellitus
- Delayed menarche
- Type I diabetes mellitus
Showing 5 of 69 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Stub1tm1Cpat/Stub1tm1Cpat [background:] involves: 129S/SvEv * C57BL/6·MGI:2680011·Mus musculus
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?
2,797
2,797 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.
2,797 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).
2,180 in the last 10 years · low confidence
Phrase hits: 136 · MeSH hits: 0
Who's working on it?
1,026
Distinct author names in 136 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 Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.
Papers in Europe PMC - 04Filla A6 papers · 2023
Department of Neurosciences, Reproductive and Odontostomatological Sciences, Federico II University, 80131 Naples, Italy.
Papers in Europe PMC - 05Patterson C6 papers · 2019
The Office of the Chancellor, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America.
Papers in Europe PMC - 06Santorelli FM6 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 07Zhang S6 papers · 2025
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 450000, Zhengzhou, Henan, China.
Papers in Europe PMC - 08Galatolo D5 papers · 2023
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, 56128 Pisa, Italy.
Papers in Europe PMC - 09Sanchez-Hodge R5 papers · 2021
Computational Medicine Program, Department of Pharmacology, Department of Pathology and Lab Medicine, McAllister Heart Institute, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Papers in Europe PMC - 10Scaglione KM5 papers · 2022
Department of Molecular Genetics and Microbiology, Duke University, Durham, North Carolina 27710.
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). 2 trials are registered for autosomal recessive cerebellar ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
2 interventional trials matched autosomal recessive cerebellar ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal recessive cerebellar ataxia
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04261127·RECRUITING·Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
Conditions: Autosomal Recessive Cerebellar Ataxia·Matched via name phrase
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
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 Autosomal recessive cerebellar ataxia due to STUB1 deficiency — check Associations / patient organisations on that page.
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.
("Autosomal recessive cerebellar ataxia due to STUB1 deficiency" OR "SCAR16" OR "Spinocerebellar ataxia autosomal recessive type 16" OR "STUB1 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in STUB1" OR "autosomal recessive spinocerebellar ataxia 16" OR "autosomal recessive spinocerebellar ataxia type 16" OR "spinocerebellar ataxia, autosomal recessive type 16") OR ("STUB1" OR "STUB1 syndrome" OR "STUB1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive cerebellar ataxia due to STUB1 deficiency" OR "SCAR16" OR "Spinocerebellar ataxia autosomal recessive type 16" OR "STUB1 autosomal recessive cerebellar ataxia" OR "autosomal recessive cerebellar ataxia caused by mutation in STUB1" OR "autosomal recessive spinocerebellar ataxia 16" OR "autosomal recessive spinocerebellar ataxia type 16" OR "spinocerebellar ataxia, autosomal recessive type 16"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive cerebellar ataxia"
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
- "SCAR16" also appears on ORPHA:98769
- Publication count (2797) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:43:00.212Z