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ORPHA:101109

Spinocerebellar ataxia type 28

low confidenceDisorder

Also known as: SCA28

Publications

1,168

Trials

0

Interventional, condition-specific

Researchers

1,278

Distinct authors in sample

Gene link

AFG3L2

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 28 (SCA28) is a very rare subtype of type I cerebellar (ADCA type I). It is characterized by juvenile onset, slowly cerebellar due to Purkinje cell degeneration.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

spinocerebellar ataxia type 28

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

    Definitive — AFG3L2

  2. LiteraturePresent

    1,168 matched papers (861 in last 10 years) Source

  3. Phenotype characterisedPresent

    38 HPO annotations (e.g. Parkinsonism; Dystonia; Ragged-red muscle fibers) 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 (AFG3L2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

38

Associated phenotypes · MONDO:0012450

  • Parkinsonism
  • Dystonia
  • Ragged-red muscle fibers
  • Babinski sign
  • Somatic sensory dysfunction

Showing 5 of 38 — 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?

1,168

1,168 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.

1,168 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).

861 in the last 10 years · low confidence

Phrase hits: 318 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,278

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
    Maltecca F12 papers · 2026

    Mitochondrial Dysfunctions in Neurodegeneration Unit, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy.

    Papers in Europe PMC
  2. 02
    Brusco A10 papers · 2019

    Department of Medical Sciences, University of Torino, via Santena 19, 10126, Torino, Italy. alfredo.brusco@unito.it.

    Papers in Europe PMC
  3. 03
    Casari G10 papers · 2023

    Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli-Naples, Italy; Vita-Salute San Raffaele University, Milan, Italy. Electronic address: casari.giorgio@hsr.it.

    Papers in Europe PMC
  4. 04
    Langer T10 papers · 2019

    Institute for Genetics, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  5. 05
    Taroni F9 papers · 2023

    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  6. 06
    Cagnoli C8 papers · 2019

    Dipartimento di Genetica Biologia e Biochimica, Università degli Studi di Torino and S.C. Genetica Medica, Ospedale San Giovanni Battista di Torino, Torino, Italy.

    Papers in Europe PMC
  7. 07
    Durr A8 papers · 2026

    Université Pierre et Marie Curie-Paris, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, UMR-S975, Paris, France. alexandra.durr@upmc.fr

    Papers in Europe PMC
  8. 08
    Mariotti C8 papers · 2025

    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS-Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Di Bella D7 papers · 2023

    Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Synofzik M7 papers · 2026

    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Germany.

    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 28 — 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 28" OR "SCA28") OR (MESH:"Spinocerebellar ataxia 28") OR ("AFG3L2" OR "AFG3L2 syndrome" OR "AFG3L2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spinocerebellar ataxia 28

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Spinocerebellar ataxia type 28" OR "SCA28" OR "Spinocerebellar ataxia 28"

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 (1168) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T07:20:03.297Z