Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
Using iPSC Derived Human Basal Ganglia Neurons From Patients With Leigh Syndrome for Metabolic Studies, Assay Development, and Drug Repurposing.
Charite University, Berlin, Germany
80 participants
Mar 1, 2020
OBSERVATIONAL
Conditions
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.
Eligibility
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Interventions
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.
Locations(2)
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NCT06967831