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ORPHA:98764

Spinocerebellar ataxia type 27A

low confidenceDisorder

Also known as: SCA27A

Publications

2,655

Trials

0

Interventional, condition-specific

Researchers

1,135

Distinct authors in sample

Gene link

FGF14

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

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 — FGF14

  2. LiteraturePresent

    2,655 matched papers (2,044 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Dysarthria; Aggressive behavior; Gait ataxia) Source

  4. Animal modelPresent

    1 genotype model (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 (FGF14).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0012247

  • Dysarthria
  • Aggressive behavior
  • Gait ataxia
  • Memory impairment
  • Strabismus

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

2,655

2,655 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.

2,655 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).

2,044 in the last 10 years · low confidence

Phrase hits: 205 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,135

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
    Laezza 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
  2. 02
    Ornitz DM13 papers · 2026

    a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.

    Papers in Europe PMC
  3. 03
    Nerbonne JM12 papers · 2026

    a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.

    Papers in Europe PMC
  4. 04
    Pitt GS9 papers · 2017

    Cardiovascular Research Institute, Weill Cornell Medicine, New York, NY 10021 geoffrey.pitt@med.cornell.edu.

    Papers in Europe PMC
  5. 05
    Shakkottai VG9 papers · 2024

    Department of Neurology, University of Michigan, Ann Arbor, Michigan, 48109, USA.

    Papers in Europe PMC
  6. 06
    Brais 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
  7. 07
    Wang C7 papers · 2017

    Ion Channel Research Unit, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

    Papers in Europe PMC
  8. 08
    Bosch MK6 papers · 2025

    a Department of Developmental Biology , Washington University School of Medicine , St. Louis , MO , USA.

    Papers in Europe PMC
  9. 09
    Houlden H6 papers · 2025

    Department of Molecular Neuroscience, UCL Institute of Neurology, London, England.

    Papers in Europe PMC
  10. 10
    Hoxha E6 papers · 2025

    Neuroscience Institute Cavalieri Ottolenghi (NICO), Turin, Italy.

    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 27A — 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 27A" OR "SCA27A" OR "SCA27" OR "spinocerebellar ataxia type 27") OR (MESH:"Spinocerebellar ataxia 27") OR ("FGF14" OR "FGF14 syndrome" OR "FGF14-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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 (2655) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T05:21:58.069Z