RecruitingNot Applicable

Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

Germany80 participantsStarted 2020-03-01

Plain-language 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

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

Reduction of the increased mitochondrial membrane potential

Timeframe: 1 year

Trial details

NCT IDNCT06967831

SponsorCharite University, Berlin, Germany

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2030-02-28

Contact for this trial

Markus Schuelke, MD

+49 30 4505 66112 markus.schuelke@charite.de

View on ClinicalTrials.gov More Leigh Syndrome (Maternally Inherited, MILS) trials