Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

In this project, the investigators are using iPSC lines derived from patients with Leigh syndrome that carry mutations in the mitochondrial (mtDNA) and in the nuclear DNA (nDNA) to reprogram them into neural progenitor cells and into dopaminergic neurons. The researchers are using this experimental system to screen FDA (Food and Drug Administration, USA) and EMA (European Medicines Agency) approved drugs for a positive effect on Leigh patient-derived neuronal cells (drug repurposing) using various biochemical, optic, and morphological outcome measures. Confirmed positive hits may be used for compassionate off-label use in Leigh patients when no standard treatment is available.

NCT Number	NCT06967831
Lead Sponsor	Charite University, Berlin, Germany Collaborators: European Union, German Research Foundation, German Federal Ministry of Education and Research
Conditions	Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR)
Enrollment	80 participants
Start Date	2020-03-01
Primary Completion	2030-02-28 (estimated)
Study Completion	2030-02-28 (estimated)
Updated on ClinicalTrials.gov	2025-05-13