ORPHA:314603
Autosomal recessive spastic ataxia with leukoencephalopathy
Also known as: ARSAL · Autosomal recessive spastic ataxia type 3 · SPAX3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,503
Trials
0
Interventional, condition-specific
Researchers
1,217
Distinct authors in sample
Gene link
MARS2
Moderate
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, spastic disease characterized by cerebellar , spasticity, cerebellar (and in some cases cerebral) atrophy, dystonia, and leukoencephalopathy.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012664
- MeSH:C566956
- OMIM:611390
- UMLS:C1969645
Additional Mondo synonyms (4)
MARS2 autosomal recessive spastic ataxia · autosomal recessive spastic ataxia caused by mutation in MARS2 · autosomal recessive spastic ataxia type 3 · spastic ataxia type 3
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Moderate — MARS2
- LiteraturePresent
1,503 matched papers (1,102 in last 10 years) Source
- Phenotype characterisedPresent
35 HPO annotations (e.g. Spastic dysarthria; Cerebellar hypoplasia; Hyperreflexia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 3 for broader category autosomal recessive spastic ataxia
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 MARS2.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
35
Associated phenotypes · MONDO:0012664
- Spastic dysarthria
- Cerebellar hypoplasia
- Hyperreflexia
- Spastic ataxia
- Urinary urgency
Showing 5 of 35 — 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?
1,503
1,503 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.
1,503 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).
1,102 in the last 10 years · low confidence
Phrase hits: 578 · MeSH hits: 0
Who's working on it?
1,217
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.
- 01Arsal SA33 papers · 2026
Shaheed Mohtarma Benazir Bhutto Medical College, Lyari Hospital Rd, Rangiwara Karachi, Karachi, 75100, Pakistan. aliarsalpsp@gmail.com.
Papers in Europe PMC - 02Kumar A21 papers · 2026
Shaheed Mohtarma Benazir Bhutto Medical College, Lyari Hospital Rd, Rangiwara Karachi, Karachi, 75100, Pakistan.
Papers in Europe PMC - 03Gagnon C14 papers · 2026
Groupe de recherche interdisciplinaire sur les maladies neuromusculaires, Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean, Jonquière, Québec, Canada; Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Faculté de médecine et des sciences de la santé, Université de Sherbrooke, Québec, Canada. Electronic address: cynthia.gagnon4@usherbrooke.ca.
Papers in Europe PMC - 04Iqbal U13 papers · 2026
Shaheed Mohtarma Benazir Bhutto Medical College, Lyari Hospital Rd, Rangiwara Karachi, Karachi, 75010, Pakistan.
Papers in Europe PMC - 05Brais B10 papers · 2026
Montreal Neurological Institute and Hospital, McGill University, Montréal, Québec, Canada.
Papers in Europe PMC - 06Okon II10 papers · 2026
Department of Neurosurgery, Dell Medical School, University of Texas, Austin, Texas, USA.
Papers in Europe PMC - 07
- 08Synofzik M9 papers · 2026
German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Papers in Europe PMC - 09Tharwani A8 papers · 2026
Department of Biological and Biomedical Sciences, The Aga Khan University, Pakistan.
Papers in Europe PMC - 10
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). 3 trials are registered for autosomal recessive spastic ataxia, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
3 interventional trials matched autosomal recessive spastic ataxia, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: autosomal recessive spastic ataxia
3
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT06261424·RECRUITING·Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias
Conditions: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay · Spastic Paraplegia 7·Matched via name phrase
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.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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 Autosomal recessive spastic ataxia with leukoencephalopathy — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 with leukoencephalopathy" OR "ARSAL" OR "Autosomal recessive spastic ataxia type 3" OR "SPAX3" OR "MARS2 autosomal recessive spastic ataxia" OR "autosomal recessive spastic ataxia caused by mutation in MARS2" OR "spastic ataxia type 3") OR (MESH:"Ataxia, Spastic, 3, Autosomal Recessive") OR ("MARS2" OR "MARS2 syndrome" OR "MARS2-related")MeSH descriptor terms unioned into the query: Ataxia, Spastic, 3, Autosomal Recessive
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic ataxia with leukoencephalopathy" OR "ARSAL" OR "Autosomal recessive spastic ataxia type 3" OR "SPAX3" OR "MARS2 autosomal recessive spastic ataxia" OR "autosomal recessive spastic ataxia caused by mutation in MARS2" OR "spastic ataxia type 3" OR "Ataxia, Spastic, 3, Autosomal Recessive"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"autosomal recessive spastic ataxia"
Query health: suspect — strategies attempted: phrase, mesh; 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 (1503) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:09:44.334Z