ORPHA:276183
Spinocerebellar ataxia type 32
Also known as: Cerebellar ataxia with azoospermia and intellectual disability · SCA32
Publications
33
38.6th percentile
Trials
0
Interventional, condition-specific
Researchers
199
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
An cerebellar type 1 that is characterized by and cognitive impairment. Azoospermia is a typical feature in affected males.
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:0013486
- OMIM:613909
- UMLS:C3151343
Additional Mondo synonyms (1)
cerebellar ataxia with azoospermia and intellectual disability
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
33 matched papers (22 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
33
33 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.
33 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).
22 in the last 10 years · high confidence · 38.6th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
199
Distinct author names in 33 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.
- 01Ashizawa T3 papers · 2015
Department of Neurology, Center for Movement Disorders and Neurorestoration College of Medicine, McKnight Brain Institute, University of Florida, 1149 South Newell Drive, L3-100, Gainesville, FL 32611, USA. Electronic address: tetsuo.ashizawa@neurology.ufl.edu.
Papers in Europe PMC - 02Brice A2 papers · 2015
AP-HP, Genetic Department, Pitié-Salpêtrière University Hospital F-75013, Paris, France ; Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France.
Papers in Europe PMC - 03Houlden H2 papers · 2023
Department of Molecular Neuroscience, UCL Institute of Neurology, London, England.
Papers in Europe PMC - 04Stevanin G2 papers · 2015
Sorbonne Universités, Université Pierre et Marie Curie (UPMC) Univ Paris 06 UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM (Brain and Spine Institute) Pitié-Salpêtrière Hospital F-75013, Paris, France ; Neurogenetics Team, Ecole Pratique des Hautes Etudes, Institut du Cerveau et de la Moelle épinière F-75013, Paris, France.
Papers in Europe PMC - 05Teive HAG2 papers · 2023
Movement Disorders Unit, Neurology Service, Internal Medicine Department Hospital de Clínicas, Federal University of Parana Curitiba Parana Brazil.
Papers in Europe PMC - 06Wang H2 papers · 2024
Department of Otorhinolaryngology Head and Neck Surgery, Central Hospital of Chaoyang, Liaoning, 122000, China.
Papers in Europe PMC - 07Abdullah A1 paper · 2023
Department of Pediatrics, Adan Hospital, Ministry of Health, Hadiya, Kuwait.
Papers in Europe PMC - 08Abdulrahim M1 paper · 2023
King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 09Aboelanine AH1 paper · 2023
Kuwait Medical Genetics Centre, Ministry of Health, Sulaibikhat, Kuwait.
Papers in Europe PMC - 10Aguiló S1 paper · 2023
Área de Urgencias, Hospital Clínico, IDIBAPS, Universidad de Barcelona, Barcelona, España. Electronic address: saguilo@clinic.cat.
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.
high 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 32" OR "Cerebellar ataxia with azoospermia and intellectual disability" OR "SCA32"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 32" OR "Cerebellar ataxia with azoospermia and intellectual disability" OR "SCA32" OR "autosomal dominant cerebellar ataxia type I" OR "autosomal dominant cerebellar ataxia"
Recall-expansion terms: 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, 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
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:39:49.258Z