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ORPHA:98

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

high confidenceDisorder

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

Publications

678

89.3th percentile

Trials

7

Interventional, condition-specific

Researchers

1,072

Distinct authors in sample

Gene link

SACS

Definitive

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SACS

  2. LiteraturePresent

    678 matched papers (451 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    7 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)

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?

678

678 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=5449) is 41.

678 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).

451 in the last 10 years · high confidence · 89.3th percentile (publications denominator)

Phrase hits: 677 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,072

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 C33 papers · 2026

    Charles-Le-Moyne-Saguenay-Lac-St-Jean Research Center, Faculty of Medicine and Health Sciences, University of Sherbrooke, QC, Canada; Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, QC, Canada. Electronic address: cynthia.gagnon4@usherbrooke.ca.

    Papers in Europe PMC
  2. 02
    Brais B32 papers · 2026

    Montreal Neurological Institute, McGill University, QC, Canada.

    Papers in Europe PMC
  3. 03
    Santorelli FM23 papers · 2025

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

    Papers in Europe PMC
  4. 04
    Synofzik M23 papers · 2026

    Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center for Neurodegenerative Diseases, Tübingen, Germany.

    Papers in Europe PMC
  5. 05
    Lessard I20 papers · 2025

    Charles-Le-Moyne-Saguenay-Lac-St-Jean Research Center, Faculty of Medicine and Health Sciences, University of Sherbrooke, QC, Canada; Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, QC, Canada.

    Papers in Europe PMC
  6. 06
    Côté I15 papers · 2026

    Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, QC, Canada.

    Papers in Europe PMC
  7. 07
    Mathieu J12 papers · 2025

    Groupe de Recherche Interdisciplinaire Sur Les Maladies Neuromusculaires, Centre Intégré Universitaire de Santé et de Services Sociaux du Saguenay-Lac-St-Jean, QC, Canada.

    Papers in Europe PMC
  8. 08
    Traschütz A10 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
  9. 09
    Hébert LJ9 papers · 2025

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

    Papers in Europe PMC
  10. 10
    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

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

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

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

high confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 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.

Observational and natural-history studies

2 observational studies match 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.

Open the complete matched search on ClinicalTrials.gov

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.

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 2026-07-26

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"

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" OR "SACS"

Recall-expansion terms: SACS

Interventional trials matched via: phrase, 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: 7 interventional · 2 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, 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

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