Collection of Blood and Skin Samples From Patients With Primary Mitochondrial Diseases and Healthy Volunteers

Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes. Despite a prevalence of roughly 1 in 8500 in the population there is no effective treatments for the majority of mitochondrial diseases beyond supportive care (Gorman 2016, Elliott 2008). Many of these, such as Pearson syndrome and Kearns-Sayre syndrome, are early onset disorders, and may lead to mortality within the first decades of life. Importantly, mitochondria are selectively inherited from the mother. In addition, there are numerous diseases in which mitochondrial dysfunction plays an important role. Some examples are Alzheimer's and Parkinson's disease, both of which are known to have mitochondrial involvement. Minovia therapeutics develops a therapeutic intervention called mitochondrial augmentation technology (MAT). For the development work, Minovia needs patients' cells with different mutations that will allow to study the baseline heteroplasmy and functionality of patient hematopoietic cells, identify potential biomarkers to assess mitochondrial content and function in liquid biopsies, and study the efficacy of MAT in different PMDs.