ORPHA:254905
Isolated cytochrome C oxidase deficiency
Also known as: Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency
Publications
5,081
Trials
0
Interventional, condition-specific
Researchers
1,301
Distinct authors in sample
Gene link
COX14, COX8A, LRPPRC
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare oxidative phosphorylation disorder characterized by a highly variable clinical , including a benign type affecting mainly the skeletal muscle, a lethal linked to severe and dysfunction in skeletal muscle and often also in heart, Leigh syndrome, which causes severe, early-onset, , and fatal , and French-Canadian type Leigh syndrome, which affects mostly the skeletal muscle, but also brain and liver.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
Additional Mondo synonyms (1)
Cytochrome C Oxidase Deficiency
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — COX14, COX8A, LRPPRC, PET100
- LiteraturePresent
5,081 matched papers (3,384 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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 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?
Yes — we know a specific gene responsible (COX14, COX8A, LRPPRC…).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
5,081
5,081 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
5,081 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).
3,384 in the last 10 years · low confidence
Phrase hits: 1,316 · MeSH hits: 0
Who's working on it?
1,301
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.
- 01Taylor RW8 papers · 2025
Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.
Papers in Europe PMC - 02Corti S6 papers · 2026
Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Papers in Europe PMC - 03DiMauro S6 papers · 2012
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. sd12@columbia.edu
Papers in Europe PMC - 04Oldfors A6 papers · 2024
Department of Pathology, Institute of Biomedicine, The Sahlgrenska Academy at the University of Gothenburg, Gothenburg, Sweden. Electronic address: anders.oldfors@gu.se.
Papers in Europe PMC - 05Ripolone M6 papers · 2026
Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Papers in Europe PMC - 06Schon EA6 papers · 2016
Department of Neurology, Columbia University Medical Center, New York, NY, 10032, USA.
Papers in Europe PMC - 07Zeviani M6 papers · 2021
Unit of Molecular Neurogenetics, Foundation IRCCS Institute of Neurology Besta, 20126 Milan, Italy; MRC Mitochondrial Biology Unit, Cambridge CB2 0XY, UK. Electronic address: mdz21@mrc-mbu.cam.ac.uk.
Papers in Europe PMC - 08Comi GP5 papers · 2026
Neurology Unit, Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Centre, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
Papers in Europe PMC - 09Dennerlein S5 papers · 2022
Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.
Papers in Europe PMC - 10Hedberg-Oldfors C5 papers · 2024
Department of Pathology and Genetics (C.H.-O., A.O.) and Medical Biochemistry and Cell Biology (B.M., S.B., B.P., D.E., J.P.U., E.L., M.F.), University of Gothenburg; and Neuromuscular Centre (C.L.), Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden.
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).
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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 Isolated cytochrome C oxidase deficiency — 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.
("Isolated cytochrome C oxidase deficiency" OR "Isolated COX deficiency" OR "Isolated mitochondrial respiratory chain complex IV deficiency" OR "Cytochrome C Oxidase Deficiency") OR ("COX14" OR "COX14 syndrome" OR "COX14-related" OR "COX8A" OR "COX8A syndrome" OR "COX8A-related" OR "LRPPRC" OR "LRPPRC syndrome" OR "LRPPRC-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated cytochrome C oxidase deficiency" OR "Isolated COX deficiency" OR "Isolated mitochondrial respiratory chain complex IV deficiency" OR "Cytochrome C Oxidase Deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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 (5081) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T11:09:13.824Z