Currently there are no treatment options for these patients and drug development is hampered by the lack of good outcome measures. Having a biomarker that registers a treatment effect will be game-changing in drug-development for primary mitochondrial disease.
Now, there is no published biomarker for mitochondrial disease that can be used to measure a treatment effect. Using samples from our recent clinical trial (doi:10.1093/brain/awae277) we have recently found a metabolite that correlates with disease severity and treatment. To corroborate these findings, we are collaborating with specialized hospital departments treating mitochondrial disease patients. However, samples from control individuals are very hard to obtain.
In a later stage of the project we plan to include other neurodegenerative diseases/ and the aged population in our analysis.