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
| Condition(s) | Leigh Syndrome (Maternally Inherited, MILS), Leigh Syndrome (AR, AD, XR) |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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. |
| Who can participate | Inclusion Criteria: 1. Patient has a disease causing mutation in one of the genes causing Leigh syndrome if mutated, 2. Patient has the characteristic cranial MRI abnormalities of Leigh syndrome Exclusion Criteria: 1. bleeding disorder that precludes a skin biopsy, 2. retraction of consent |
| Sex | All |
| Lead sponsor | Charite University, Berlin, Germany |
| Locations | Düsseldorf, North Rhine-Westphalia, Germany; Berlin, State of Berlin, Germany |
| Start date | 2020-03-01 |
| NCT ID | NCT06967831 |
| Official listing | https://clinicaltrials.gov/study/NCT06967831 |