ORPHA:98764
Spinocerebellar ataxia type 27A
Also known as: SCA27A
Publications
206
69.9th percentile
Trials
1
Interventional, condition-specific
Researchers
1,135
Distinct authors in sample
Gene link
FGF14
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Spinocerebellar type 27 (SCA27) is a very rare subtype of type I cerebellar (ADCA type I). It is characterized by early-onset tremor, dyskinesia, and slowly cerebellar .
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:0012247
- MeSH:C537204
- OMIM:609307
- UMLS:C1836383
Additional Mondo synonyms (2)
SCA27 · spinocerebellar ataxia type 27
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — FGF14
- LiteraturePresent
206 matched papers (123 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (FGF14).
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?
206
206 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.
206 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).
123 in the last 10 years · medium confidence · 69.9th percentile (publications denominator)
Phrase hits: 205 · MeSH hits: 2
Who's working on it?
1,135
Distinct author names in 200 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.
- 01Laezza F17 papers · 2025
Department of Pharmacology & Toxicology, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555, United States; Mitchell Center for Neurodegenerative Diseases, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555, United States; Center for Addiction Research, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555, United States; Center for Biomedical Engineering, University of Texas Medical Branch, 301 University Blvd, Galveston, TX 77555, United States. Electronic address: felaezza@utmb.edu.
Papers in Europe PMC - 02Ornitz DM13 papers · 2026
a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.
Papers in Europe PMC - 03Nerbonne JM12 papers · 2026
a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.
Papers in Europe PMC - 04Pitt GS9 papers · 2017
Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY 10021 geoffrey.pitt@med.cornell.edu.
Papers in Europe PMC - 05Shakkottai VG9 papers · 2024
Department of Neurology, University of Michigan, Ann Arbor, Michigan, 48109, USA.
Papers in Europe PMC - 06Brais B7 papers · 2026
From the Departments of Neurology and Neurosurgery (D.P., M.-J.D., J.A.S., R.L., R. Sakalla, R.R., X.A.-C., R.M., C.H.C., A.-L.L., R.L.P., B.B.) and Pathology (J.A.S.), Montreal Neurological Hospital and Institute, McGill Genome Centre, Department of Human Genetics (S.J.R., J.R.), and the Departments of Diagnostic Radiology (R.L.P.) and Human Genetics (K.C., R.R., X.A.-C., B.B.), McGill University, Montreal Heart Institute (S.P., M.-P.D.), the Departments of Neurosciences (M.T., A.D.) and Medicine (M.P.D.), Faculty of Medicine, Université de Montréal, Université de Montréal Beaulieu-Saucier Pharmacogenomics Center (S.P.), Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.T., A.D.), and Centre de Réadaptation Lucie-Bruneau (A.D., B.B.), Montreal, the Faculty of Medicine and Health Sciences, Sherbrooke University, Sherbrooke, QC (J.M., F.E., M.-F.R.), and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa (K.M.B.) - all in Canada; the Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery (D.P., C.R., S.N., H.H.), the Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders (Z.J.) and the Department of Neurodegenerative Disease (Z.C.), UCL Queen Square Institute of Neurology, University College London, and the Division of Neuropathology, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust (Z.J.) - all in London; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.F., C.Y., D.B., A.R., S.Z.), and the Department of Neurology (C.Y., M.A.S.), University of Miami Miller School of Medicine, Miami; the Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, and the German Center for Neurodegenerative Diseases - both in Tübingen, Germany (C.W., R. Schüle, L.S., M.S.); Service de Génétique Clinique et de Neurologie, Hôpital Brabois Enfants, and INSERM Unité 1256 N-GERE (Nutrition-Genetics and Environmental Risk Exposure), Université de Lorraine - both in Nancy, France (M.R.); Centre for Medical Research, University of Western Australia and Harry Perkins Institute of Medical Research (C.K.S., G.R., N.G.L.), the Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health (C.K.S.), and the Department of Neurology, Royal Perth Hospital (C.A., P.J.L.) - all in Perth, WA, Australia; the Ataxia and Hereditary Spastic Paraplegia Unit, Service of Neurology, Hospital Universitari de Girona Dr. Josep Trueta and Hospital Santa Caterina IAS, Girona (D.G.), and the Alzheimer's Disease and other Cognitive Disorders Unit, Service of Neurology, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Neurologic Tissue Brain Bank, Biobanc-Hospital Clínic-IDIBAPS, Barcelona (L.M.P.) - all in Spain; the Department of Genetics, Harvard Medical School, Boston (K.C.); the Department of Neurology, University Hospital Basel, University of Basel, Basel, Switzerland (S.N.); and the Department of Neurology (V.N., S.V., M.B., A.N.) and the Molecular Genetics Laboratory, Department of Psychiatry (M.P.), National Institute of Mental Health and Neurosciences, Bengaluru, India.
Papers in Europe PMC - 07Wang C7 papers · 2017
Ion Channel Research Unit, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.
Papers in Europe PMC - 08Bosch MK6 papers · 2025
a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.
Papers in Europe PMC - 09Houlden H6 papers · 2025
Department of Molecular Neuroscience, UCL Institute of Neurology, London, England.
Papers in Europe PMC - 10Hoxha E6 papers · 2025
Neuroscience Institute Cavalieri Ottolenghi (NICO), Turin, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07185347·RECRUITING·A Randomized, Parallel-arm, Double Blind, Placebo-controlled Study to Assess the Efficacy of Fampridine for Patients With Spinocerebellar Ataxia SCA27B Caused by a GAA Expansion in the FGF14 Gene
Conditions: Spinocerebellar Ataxia 27B (SCA27B)·Matched via recall expansion
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 27A" OR "SCA27A" OR "SCA27" OR "spinocerebellar ataxia type 27"
MeSH descriptor terms unioned into the query: Spinocerebellar ataxia 27
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spinocerebellar ataxia type 27A" OR "SCA27A" OR "SCA27" OR "spinocerebellar ataxia type 27" OR "Spinocerebellar ataxia 27" OR "FGF14"
Recall-expansion terms: FGF14
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 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, mesh, 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
- Publication count (206) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T05:21:58.069Z