Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

Taking a punch skin biopsy of 3 mm diameter under local anesthesia and culturing skin fibroblasts from them.

Using cultured skin fibroblasts of the patients, iPSCs will be generated according to standard procedures.

Drawing blood from a peripheral vein for DNA and RNA isolation. The degree of heteroplasmy (mutation load) for the mtDNA mutation will be determined in the blood DNA.

In case the investigators identify a positive hit during drug repurposing with FDA and EMA approved substances, they will offer it as off-label compassionate use to patients for whom no standard treatment is available.