Mitochondrial Diseases
Recent clinical, regulatory, research and industry developments relating to this disease.
The multifaceted role of mitochondria in autism spectrum disorder.
Mitochondrial dysfunction: mechanisms and advances in therapy.
Mitochondrial and metabolic dysfunction of peripheral immune cells in multiple sclerosis.
Mitochondrial dysfunction in neurodegenerative disorders.
Targeting memory T cell metabolism to improve immunity.
The Pathogenesis of Sepsis and Potential Therapeutic Targets.
Assessing mitochondrial dysfunction in cells.
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.
Mitochondrial dynamics--fusion, fission, movement, and mitophagy--in neurodegenerative diseases.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 2 clinical trials expected to report results, the earliest in Q3 2027.
- Q3 2027The Utility of pGz in Primary Mitochondrial Disorders
- Q3 2028A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel-group, Pivotal Trial to Assess the Efficacy and Safety of Sonlicromanol in Adult Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Variant
Clinical MilestonesViewHide
- 2026-06-29A Phase III, Randomised, Double-blind, Placebo-controlled, Parallel-group, Pivotal Trial to Assess the Efficacy and Safety of Sonlicromanol in Adult Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G VariantResults expected Q3 2028
- 2025-11-10The Utility of pGz in Primary Mitochondrial DisordersResults expected Q3 2027
- 2026-06-29ClinicalA Phase III, Randomised, Double-blind, Placebo-controlled, Parallel-group, Pivotal Trial to Assess the Efficacy and Safety of Sonlicromanol in Adult Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G VariantResults expected Q3 2028
- 2025-11-10ClinicalThe Utility of pGz in Primary Mitochondrial DisordersResults expected Q3 2027
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes8
- Mitochondrial Diseases4
- Mitochondria2
- Alzheimer Disease1
- Autism Spectrum Disorder1
- Autophagy1
- Clinical Laboratory Techniques1
- Colitis, Ulcerative1
- Crohn Disease1
Leading journals6
- International journal of molecular sciences2
- Molecular psychiatry2
- EBioMedicine1
- Human molecular genetics1
- Journal of neuroinflammation1
- Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics1
Leading researchers8
- Amal H1
- Borrowman SH1
- Brand MD1
- Cai S1
- Chan DC1
- Chandra B1
- Chen H1
- Chen J1
Affiliations (unnormalised)6
- Albert Szent-Györgyi Clinical Center1
- Biomedical Research Center of South China1
- Buck Institute for Research on Aging1
- Centre for Orthopaedic Research1
- Clinical Laboratory1
- Division of Biology and Howard Hughes Medical Institute1
Related conditions
Diseases frequently studied alongside this one. Number shows shared papers.
Disease profile
A grounded synthesis of the condition — overview, causes, mechanism, risk factors and current standard of care.
Mitochondrial diseases are disorders caused by abnormal mitochondrial function. They can arise from mutations in mitochondrial DNA or in nuclear genes that encode mitochondrial components, and they may also result from acquired mitochondrial dysfunction due to drugs, infections, or other environmental causes.
Known causes include inherited or acquired mutations in mitochondrial DNA and nuclear genes that code for mitochondrial components. The grounding also supports acquired mitochondrial dysfunction from adverse effects of drugs, infections, and other environmental causes.
The core biological problem is impaired mitochondrial function, especially reduced ability to generate ATP appropriately in response to energy demand. The literature grounding also links disease biology to altered electron transport, energy metabolism, autophagy, and mitophagy, reflecting defective maintenance and turnover of mitochondria.
Genetic susceptibility from mutations in mitochondrial DNA or nuclear genes increases risk. Acquired exposures such as drugs, infections, and other environmental causes can also increase risk by inducing mitochondrial dysfunction.
The supplied grounding supports therapy as a general aspect of management but does not provide disease-specific standard treatments. It indicates that mitochondrial dysfunction is a therapeutic target and mentions emerging strategies such as mitochondrial replacement or replenishment approaches, but not a standard modality for all mitochondrial diseases.
AI-generated summary grounded in MeSH and 6 peer-reviewed sources. Informational only — not medical advice. Generated 2026-07-07.
Reference
Authoritative identity, definition & identifiers.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.