ORPHA:255210
Mitochondrial DNA-associated Leigh syndrome
Also known as: MILS · Maternally-inherited Leigh disease · Maternally-inherited infantile subacute necrotizing encephalopathy · mtDNA-associated Leigh syndrome
Publications
30
35.6th percentile
Trials
0
Interventional, condition-specific
Researchers
161
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by , lactic , , , respiratory disorders and , with onset in infancy or early childhood, and resulting from maternally-inherited mutations in DNA.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016814
- MeSH:C536035
- UMLS:C2931092
Additional Mondo synonyms (2)
maternally-inherited Leigh disease · maternally-inherited infantile subacute necrotizing encephalopathy
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
30 matched papers (18 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; 8 for broader category Leigh syndrome
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?
30
30 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.
30 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).
18 in the last 10 years · medium confidence · 35.6th percentile (publications denominator)
Phrase hits: 22 · MeSH hits: 8
Who's working on it?
161
Distinct author names in 30 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.
- 01Dada R4 papers · 2013Papers in Europe PMC
- 02Kumar M4 papers · 2013
Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Papers in Europe PMC - 03Lee YM4 papers · 2023
Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea.
Papers in Europe PMC - 04Na JH4 papers · 2023
Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea.
Papers in Europe PMC - 05Tanwar M3 papers · 2013
Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Papers in Europe PMC - 06Dada T2 papers · 2013Papers in Europe PMC
- 07Fogle KJ2 papers · 2019
a Department of Pharmacology & Chemical Biology , University of Pittsburgh School of Medicine , Pittsburgh , PA , USA.
Papers in Europe PMC - 08Kühlbrandt W2 papers · 2017
Department of Structural Biology, Max Planck Institute of Biophysics, Max-von-Laue-Str. 3, 60438 Frankfurt am Main, Germany. Electronic address: werner.kuehlbrandt@biophys.mpg.de.
Papers in Europe PMC - 09Mills DJ2 papers · 2017
Department of Structural Biology, Max Planck Institute of Biophysics, Max-von-Laue-Str. 3, 60438 Frankfurt am Main, Germany.
Papers in Europe PMC - 10Palladino MJ2 papers · 2019
a Department of Pharmacology & Chemical Biology , University of Pittsburgh School of Medicine , Pittsburgh , PA , USA.
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). 8 trials are registered for Leigh syndrome, 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.
medium 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.
8 interventional trials matched Leigh syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Leigh syndrome
8
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
- NCT06843811·ENROLLING BY INVITATION·Sirolimus for Leigh Syndrome
Conditions: Leigh Syndrome·Matched via name phrase
- NCT06990984·NOT YET RECRUITING·A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS)
Conditions: Leigh Syndrome·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.
"Mitochondrial DNA-associated Leigh syndrome" OR "Maternally-inherited Leigh disease" OR "Maternally-inherited infantile subacute necrotizing encephalopathy" OR "mtDNA-associated Leigh syndrome"
MeSH descriptor terms unioned into the query: Maternally Inherited Leigh Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mitochondrial DNA-associated Leigh syndrome" OR "Maternally-inherited Leigh disease" OR "Maternally-inherited infantile subacute necrotizing encephalopathy" OR "mtDNA-associated Leigh syndrome" OR "Maternally Inherited Leigh Syndrome" OR "mitochondrial oxidative phosphorylation disorder"
Recall-expansion terms: mitochondrial oxidative phosphorylation disorder
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Leigh syndrome"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MILS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T11:10:58.263Z