ORPHA:94125
Recessive mitochondrial ataxia syndrome
Also known as: MIRAS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
3,420
Trials
0
Interventional, condition-specific
Researchers
1,380
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, DNA maintenance syndrome characterized by early-onset cerebellar , and variable combination of , headache, dysarthria, ophthalmoplegia, peripheral , , psychiatric symptoms and movement disorders.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019791
- UMLS:C4760799
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,420 matched papers (1,848 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
3,420
3,420 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.
3,420 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).
1,848 in the last 10 years · low confidence
Phrase hits: 3,420 · MeSH hits: 0
Who's working on it?
1,380
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.
- 01Miras AD30 papers · 2026
Department of Metabolism, Digestion and Reproduction, Imperial College London, Hammersmith Hospital, London, UK.
Papers in Europe PMC - 02Miras-Moreno S19 papers · 2026
Department of Physical Education and Sport, Faculty of Sport Sciences, University of Granada, Granada, Spain.
Papers in Europe PMC - 03García-Ramos A15 papers · 2026
Department of Physical Education and Sport, Faculty of Sport Sciences, University of Granada, Granada, Spain.
Papers in Europe PMC - 04Lucini L10 papers · 2026
Department for Sustainable Food Process, Research Centre for Nutrigenomics and Proteomics, Università Cattolica del Sacro Cuore, Piacenza, Italy. Electronic address: luigi.lucini@unicatt.it.
Papers in Europe PMC - 05Martinón-Torres F10 papers · 2026
Genetics, Vaccines and Pediatric Infectious Diseases Research Group (GENVIP), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Galicia, Spain.
Papers in Europe PMC - 06Miras HN10 papers · 2026
School of Chemistry, University of Glasgow, Glasgow, G12 8QQ, United Kingdom.
Papers in Europe PMC - 07Mirás-Carballal S9 papers · 2026
Deparment of Communicable Diseases, Dirección Xeral de Saude Pública, Consellería de Sanidade, Xunta de Galicia, Santiago de Compostela, Galicia, Spain.
Papers in Europe PMC - 08Miras-Moreno B9 papers · 2026
Department for Sustainable Food Process, Research Centre for Nutrigenomics and Proteomics, Università Cattolica del Sacro Cuore, Piacenza, Italy. Electronic address: mariabegona.miras@um.es.
Papers in Europe PMC - 09Pardo-Seco J9 papers · 2026
Genetics, Vaccines and Pediatric Infectious Diseases Research Group (GENVIP), Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Galicia, Spain.
Papers in Europe PMC - 10González-Pérez JM8 papers · 2026
Subdirección de Sistemas y Tecnologías de la Información, Consellería de Sanidade, Xunta de Galicia, Santiago de Compostela, Galicia, Spain.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
Recruiting or not-yet-recruiting
- NCT05554835·RECRUITING·Global Registry and Natural History Study for Mitochondrial Disorders
Conditions: Mitochondrial Diseases · Kearns-Sayre Syndrome · MIDD · SANDO·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
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.
"Recessive mitochondrial ataxia syndrome" OR "MIRAS"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Recessive mitochondrial ataxia syndrome" OR "MIRAS" OR "ataxia neuropathy spectrum" OR "autosomal recessive metabolic cerebellar ataxia" OR "mitochondrial oxidative phosphorylation disorder"
Recall-expansion terms: ataxia neuropathy spectrum, autosomal recessive metabolic cerebellar ataxia, mitochondrial oxidative phosphorylation disorder
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (3420) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T04:40:17.168Z