Mitochondrial respiratory chain complex deficiency
MONDO:0000066A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.
Also known as: isolated oxidative phosphorylation complex disorder, mitochondrial complex deficiency
16 clinical trials for this condition and its sub-types, 4 tagged with Mitochondrial respiratory chain complex deficiency itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Mitochondrial respiratory chain complex deficiency
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Mitochondrial complex I deficiency 2 trials
2 sub-types
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22 sub-types
- COX deficiency, benign infantile mitochondrial myopathy 0 trials
- Mitochondrial complex 4 deficiency, nuclear type 25 0 trials
- Mitochondrial complex IV deficiency, nuclear type 1 0 trials
- Mitochondrial complex IV deficiency, nuclear type 10 0 trials
- Mitochondrial complex IV deficiency, nuclear type 11 0 trials
- Mitochondrial complex IV deficiency, nuclear type 12 0 trials
- Mitochondrial complex IV deficiency, nuclear type 14 0 trials
- Mitochondrial complex IV deficiency, nuclear type 15 0 trials
- Mitochondrial complex IV deficiency, nuclear type 16 0 trials
- Mitochondrial complex IV deficiency, nuclear type 17 0 trials
- Mitochondrial complex IV deficiency, nuclear type 18 0 trials
- Mitochondrial complex IV deficiency, nuclear type 19 0 trials
- Mitochondrial complex IV deficiency, nuclear type 20 0 trials
- Mitochondrial complex IV deficiency, nuclear type 21 0 trials
- Mitochondrial complex IV deficiency, nuclear type 22 0 trials
- Mitochondrial complex IV deficiency, nuclear type 23 0 trials
- Mitochondrial complex IV deficiency, nuclear type 24 0 trials
- Mitochondrial complex IV deficiency, nuclear type 3 0 trials
- Mitochondrial complex IV deficiency, nuclear type 4 0 trials
- Mitochondrial complex IV deficiency, nuclear type 7 0 trials
- Mitochondrial complex IV deficiency, nuclear type 8 0 trials
- Pancreatic insufficiency-anemia-hyperostosis syndrome 0 trials
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SDHC-related Mitochondrial Disease 0 trials
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Mitochondrial complex III deficiency 0 trials
1 sub-type
Most studied deeper sub-types
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Last chance access: vatiquinone for mitochondrial disease patients
Disease control Expanded access (ended)This program offered vatiquinone, an experimental liquid medication, to patients with inherited mitochondrial diseases like Leigh syndrome who had already completed a previous safety study. The goal was to continue treatment for those who might benefit, but enrollment is now clos…
Sponsor: Medical University of South Carolina • Aim: Disease control
Last updated Jun 27, 2026 12:05 UTC
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New study tests workplace coaching to keep Parkinson's patients on the job
Symptom relief OngoingThis study tests a personalized workplace intervention for 124 Dutch workers with Parkinson's disease, cerebellar ataxia, hereditary spastic paraparesis, or slowly progressive neuromuscular/mitochondrial disorders. A trained facilitator helps employees and their managers identify…
Sponsor: Radboud University Medical Center • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC
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Scientists track rare liver diseases in kids to unlock clues
Knowledge-focused PausedThis study follows up to 90 children and young adults with mitochondrial liver diseases to learn how these conditions progress over time. Researchers will collect medical data and samples to better understand the diseases and find markers that predict outcomes. The goal is to imp…
Sponsor: Arbor Research Collaborative for Health • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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MRI scans could unlock secrets of rare muscle disease
Knowledge-focused By invitation onlyThis study uses special MRI scans to measure how well muscles produce energy in people with mitochondrial disease. Researchers hope to learn more about the condition and develop a new tool to help diagnose and track it. The study involves 230 participants aged 7 to 75 with suspec…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Massive gene hunt launched for mysterious mitochondrial diseases
Knowledge-focused By invitation onlyThis study aims to discover new genetic mutations that cause mitochondrial disorders by analyzing tissue samples from up to 6,900 participants. It includes people with suspected or known mitochondrial diseases, such as MELAS or Leigh's Disease, who lack a genetic diagnosis. The r…
Sponsor: Columbia University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC