ORPHA:254343
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Also known as: Autosomal recessive spastic ataxia type 4 · SPAX4
Publications
350
72.3th percentile
Trials
0
Interventional, condition-specific
Researchers
220
Distinct authors in sample
Gene link
MTPAP
Strong
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, spastic disease characterized by onset in early childhood of spastic paraparesis, cerebellar , dysarthria and optic atrophy.
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:0013354
- OMIM:613672
- UMLS:C3150925
Additional Mondo synonyms (4)
MTPAP autosomal recessive spastic ataxia · autosomal recessive spastic ataxia caused by mutation in MTPAP · autosomal recessive spastic ataxia type 4 · spastic ataxia type 4
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
Strong — MTPAP
- LiteraturePresent
350 matched papers (256 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Optic atrophy; Dysarthria; 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?
Yes — we know a specific gene responsible (MTPAP).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
31
Associated phenotypes · MONDO:0013354
- Optic atrophy
- Dysarthria
- Hyperreflexia
- Spastic paraparesis
- Babinski sign
Showing 5 of 31 — 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?
350
350 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
350 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).
256 in the last 10 years · medium confidence · 72.3th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
220
Distinct author names in 33 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.
- 01Ando M2 papers · 2022
Department of Neurology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 02Beaudin M2 papers · 2019
Axe Neurosciences, CHU de Québec-Université Laval, Québec, QC, Canada.
Papers in Europe PMC - 03Breveglieri R2 papers · 2009Papers in Europe PMC
- 04Dziembowski A2 papers · 2021
Laboratory of RNA Biology, International Institute of Molecular and Cell Biology, Warsaw, Poland.
Papers in Europe PMC - 05Fattori P2 papers · 2009
Dipartimento di Fisiologia Umana e Generale, Università di Bologna, I-40126 Bologna, Italy.
Papers in Europe PMC - 06Galletti C2 papers · 2009
Dipartimento di Fisiologia Umana e Generale, Università di Bologna, 40127 Bologna, Italy. claudio.galletti@unibo.it
Papers in Europe PMC - 07Liudkovska V2 papers · 2021
Laboratory of RNA Biology, International Institute of Molecular and Cell Biology, Warsaw, Poland.
Papers in Europe PMC - 08
- 09
- 10Abbs S1 paper · 2019
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
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). 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.
medium 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
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-optic atrophy-dysarthria syndrome — 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-optic atrophy-dysarthria syndrome" OR "Autosomal recessive spastic ataxia type 4" OR "SPAX4" OR "MTPAP autosomal recessive spastic ataxia" OR "autosomal recessive spastic ataxia caused by mutation in MTPAP" OR "spastic ataxia type 4") OR ("MTPAP" OR "MTPAP syndrome" OR "MTPAP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" OR "Autosomal recessive spastic ataxia type 4" OR "SPAX4" OR "MTPAP autosomal recessive spastic ataxia" OR "autosomal recessive spastic ataxia caused by mutation in MTPAP" OR "spastic ataxia type 4"
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: 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 (350) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T11:01:41.601Z