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ORPHA:98

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

low confidenceDisorder

Also known as: ARSACS · Autosomal recessive spastic ataxia type 6 · SPAX6

Publications

44,634

Trials

4

Interventional, condition-specific

Researchers

1,079

Distinct authors in sample

Gene link

SACS

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder characterized by early-onset cerebellar , a pyramidal syndrome and peripheral .

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 (3)

Charlevoix-Saguenay spastic ataxia · autosomal recessive spastic ataxia of Charlevoix-Saguenay · autosomal recessive spastic ataxia type 6

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SACS

  2. LiteraturePresent

    44,634 matched papers (21,619 in last 10 years) Source

  3. Phenotype characterisedPresent

    74 HPO annotations (e.g. Dysmetria; Abnormal cerebellum morphology; Cerebellar vermis hypoplasia) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov (2 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 (SACS).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

74

Associated phenotypes · MONDO:0010041

  • Dysmetria
  • Abnormal cerebellum morphology
  • Cerebellar vermis hypoplasia
  • Sensorimotor neuropathy
  • Abnormal pyramidal sign

Showing 5 of 74 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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?

44,634

44,634 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

44,634 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).

21,619 in the last 10 years · low confidence

Phrase hits: 677 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,079

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.

  1. 01
    Gagnon C30 papers · 2026

    Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Jonquière, QC, Canada.

    Papers in Europe PMC
  2. 02
    Brais B29 papers · 2026

    From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada.

    Papers in Europe PMC
  3. 03
    Santorelli FM25 papers · 2025

    Molecular Medicine, IRCCS Fondazione Stella Maris, via dei Giacinti 2 Calambrone, 56128, Pisa, Italy. filippo3364@gmail.com.

    Papers in Europe PMC
  4. 04
    Synofzik M20 papers · 2026

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

    Papers in Europe PMC
  5. 05
    Lessard I18 papers · 2025

    From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada.

    Papers in Europe PMC
  6. 06
    Côté I13 papers · 2026

    From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada.

    Papers in Europe PMC
  7. 07
    Mathieu J10 papers · 2025

    From the Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.G., I.L., R.S.-G), Centre de recherche Charles-Le Moyne-Saguenay-Lac-Saint-Jean, Faculté de médecine et des sciences de la santé, Université de Sherbrooke; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (C.L., I.C., J.M.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean; and Montreal Neurological Institute (B.B.), McGill University, Québec, Canada.

    Papers in Europe PMC
  8. 08
    Hébert LJ9 papers · 2025

    Department of Rehabilitation, Université Laval, Quebec City, Canada.

    Papers in Europe PMC
  9. 09
    Rodrigue X9 papers · 2025

    Institut de réadaptation en déficience physique de Québec, Centre intégré universitaire de santé et de services sociaux de la Capitale-Nationale, Quebec City, Canada.

    Papers in Europe PMC
  10. 10
    Traschütz A9 papers · 2026

    Department of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: autosomal recessive spastic ataxia

0

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Parent-category matching found a broader label but no interventional trials under it. How we count trials.

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 2026-07-29

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 Autosomal recessive spastic ataxia of Charlevoix-Saguenay — 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.

("Autosomal recessive spastic ataxia of Charlevoix-Saguenay" OR "Autosomal recessive spastic ataxia of the Charlevoix-Saguenay" OR "ARSACS" OR "Autosomal recessive spastic ataxia type 6" OR "SPAX6" OR "Charlevoix-Saguenay spastic ataxia") OR (MESH:"Spastic ataxia Charlevoix-Saguenay type") OR ("SACS" OR "SACS syndrome" OR "SACS-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic ataxia Charlevoix-Saguenay type

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

"Autosomal recessive spastic ataxia of Charlevoix-Saguenay" OR "Autosomal recessive spastic ataxia of the Charlevoix-Saguenay" OR "ARSACS" OR "Autosomal recessive spastic ataxia type 6" OR "SPAX6" OR "Charlevoix-Saguenay spastic ataxia" OR "Spastic ataxia Charlevoix-Saguenay type"

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: 4 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"autosomal recessive spastic ataxia"

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 (44634) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:24:48.555Z