ORPHA:254343
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Also known as: Autosomal recessive spastic ataxia type 4 · SPAX4
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
33
40th percentile
Trials
0
Interventional, condition-specific
Researchers
220
Distinct authors in sample
Gene link
MTPAP
Strong
Readiness
3/6
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — MTPAP
- LiteraturePresent
33 matched papers (24 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
33
33 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=5449) is 41.
33 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).
24 in the last 10 years · high confidence · 40th 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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
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 2026-07-26This 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"
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" OR "MTPAP"
Recall-expansion terms: MTPAP
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, recall-expansion; 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
Ingested 2026-07-27T11:01:41.601Z