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ORPHA:423275

Spinocerebellar ataxia type 40

low confidenceDisorder

Also known as: SCA40

Publications

1,010

Trials

0

Interventional, condition-specific

Researchers

383

Distinct authors in sample

Gene link

CCDC8, CCDC88C

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Spinocerebellar type 40 (SCA40) is a very rare subtype of cerebellar type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait , ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

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 (1)

spinocerebellar ataxia type 40

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Moderate — CCDC8, CCDC88C

  2. LiteraturePresent

    1,010 matched papers (778 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Scanning speech; Pontocerebellar atrophy; Broad-based gait) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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?

Probably — there is moderate evidence for CCDC8, CCDC88C.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0014475

  • Scanning speech
  • Pontocerebellar atrophy
  • Broad-based gait
  • Dysmetria
  • Dysarthria

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,010

1,010 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.

1,010 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).

778 in the last 10 years · low confidence

Phrase hits: 91 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

383

Distinct author names in 91 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
    Bonnet PA11 papers · 1999

    Laboratoire de Chimie Organique Pharmaceutique, Faculté de Pharmacie, Montpellier.

    Papers in Europe PMC
  2. 02
    Michel A10 papers · 1999

    Laboratoire de Pharmacodynamie URA CNRS 1111, Faculté de Pharmacie, Montpellier, France.

    Papers in Europe PMC
  3. 03
    Laurent F5 papers · 1998

    Laboratoire de Pharmacodynamie, URA CNRS 1111, Faculté de Pharmacie, Montpellier.

    Papers in Europe PMC
  4. 04
    Chapat JP4 papers · 1998
    Papers in Europe PMC
  5. 05
    Ahmed AE3 papers · 2024

    Faculty of Medicine, University of Khartoum, Khartoum, Sudan.

    Papers in Europe PMC
  6. 06
    Bompart J3 papers · 1998
    Papers in Europe PMC
  7. 07
    Boucard M3 papers · 1993
    Papers in Europe PMC
  8. 08
    Chevillard C3 papers · 1999
    Papers in Europe PMC
  9. 09
    Cortijo J3 papers · 1997

    Departamento de Farmacología, Facultad de Medicine y Odontología, Universitat de València, Spain.

    Papers in Europe PMC
  10. 10
    Foster RW3 papers · 1997
    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.

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 40 — 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 40" OR "SCA40") OR ("CCDC8" OR "CCDC8 syndrome" OR "CCDC8-related" OR "CCDC88C" OR "CCDC88C syndrome" OR "CCDC88C-related")

Run this search on Europe PMC

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

"Spinocerebellar ataxia type 40" OR "SCA40"

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

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

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 (1010) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:51:01.191Z