ORPHA:631095
Spinocerebellar ataxia type 44
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.
Is anyone studying this?
16
16 papers have ever been indexed 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=183) is 38.
16 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
14 in the last 10 years · high confidence · 36.3th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
high confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GRM1).
GenCC classification: Strong.
Who's working on it?
94
Distinct author names in 16 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.
- 01Houlden H4 papers · 2025
Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK.
Papers in Europe PMC - 02Bamber E3 papers · 2017
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK.
Papers in Europe PMC - 03Becker EBE3 papers · 2017
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, UK. Electronic address: esther.becker@dpag.ox.ac.uk.
Papers in Europe PMC - 04Bettencourt C3 papers · 2017
Department of Molecular Neuroscience, Institute of Neurology, University College London, London WC1N 3BG, UK; Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London WC1N 3BG, UK.
Papers in Europe PMC - 05Clokie S3 papers · 2017
West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
Papers in Europe PMC - 06Clouston P3 papers · 2017
Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford OX3 7LE, UK.
Papers in Europe PMC - 07Fawcett K3 papers · 2017
MRC Computational Genomics Analysis and Training Programme, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK.
Papers in Europe PMC - 08Jayawant S3 papers · 2017
Department of Paediatrics, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK.
Papers in Europe PMC - 09Lickiss J3 papers · 2017
West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.
Papers in Europe PMC - 10Németh AH3 papers · 2017
Nuffield Department of Clinical Neurosciences, University of Oxford, 6th Floor West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford OX3 7HE, UK. Electronic address: andrea.nemeth@ndcn.ox.ac.uk.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 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.
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.
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 below but are not added to the query string.
"Spinocerebellar ataxia type 44" OR "spinocerebellar ataxia 44"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 44" OR "spinocerebellar ataxia 44" OR "GRM1" OR "autosomal dominant cerebellar ataxia" OR "hereditary cerebellar ataxia"
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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:617691 UMLS:C4521563
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