ORPHA:254905
Isolated cytochrome C oxidase deficiency
Also known as: Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency
Publications
1,316
Trials
1
Interventional, condition-specific
Researchers
1,301
Distinct authors in sample
Gene link
COX14, COX8A, LRPPRC
Definitive
Readiness
3/6
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — COX14, COX8A, LRPPRC, PET100
- LiteraturePresent
1,316 matched papers (294 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
1,316
1,316 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.
1,316 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).
294 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?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 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?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07337551·NOT YET RECRUITING·Gossypol Acetate + FOLFIRI + Bev in mCRC With TP53-Mutant and LRPPRC Positive
Conditions: Patients With Metastatic Colorectal Cancer Who Were TP53-mutant and LRPPRC-positive and Had Previously Failed Prior First-line Treatment·Matched via recall expansion
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.
"Isolated cytochrome C oxidase deficiency" OR "Isolated COX deficiency" OR "Isolated mitochondrial respiratory chain complex IV deficiency" OR "Cytochrome C Oxidase Deficiency"
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" OR "COX14" OR "COX8A" OR "LRPPRC" OR "PET100"
Recall-expansion terms: COX14, COX8A, LRPPRC, PET100
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 (1316) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T11:09:13.824Z