Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases - PubMed
3 hours ago
- #Clinical Trials
- #Mitochondrial Diseases
- #Non-invasive Biomarkers
- Primary mitochondrial diseases (PMDs) are a group of disorders with impaired oxidative phosphorylation and multi-system effects, especially neurological.
- Advancements in non-invasive biomarkers include circulating markers (e.g., FGF21, GDF15, NfL), digital health tools for functional assessment, and neuroimaging techniques.
- These biomarkers aim to improve diagnosis, patient stratification, disease monitoring, and pharmacodynamic readouts in clinical trials.
- Future developments require longitudinal validation, harmonized protocols, and integration of multimodal approaches for precision medicine.