Repurposing existing drugs for treating Leigh syndrome using patient-derived cells
Official title: Using iPSC Derived Human Basal Ganglia Neurons From Patients With Leigh Syndrome for Metabolic Studies, Assay Development, and Drug Repurposing.
Run by Charite University, Berlin, Germany · NCT06967831 · Data updated 2026-11-12
This study is testing if existing approved drugs can help improve brain cells made from patients with Leigh syndrome to find new treatment options for them.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 80 (estimated) |
| Sponsor | Charite University, Berlin, Germany Academic / other |
| Locations | 2 sites (Düsseldorf, North Rhine-Westphalia and 1 other locations) |
| Status | Recruiting |
| Started | March 1, 2020 |
| Main results expected | February 28, 2030 |
| Study ends | February 28, 2030 |
| Registry record updated | May 13, 2025 |
| Trial ID | NCT06967831 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are patients diagnosed with Leigh syndrome who have specific disease-causing mutations.
✕Probably not a fit
Patients without a confirmed mutation causing Leigh syndrome or those with bleeding disorders that prevent skin biopsies may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project focuses on using induced pluripotent stem cells (iPSCs) derived from patients with Leigh syndrome to create neural progenitor cells and dopaminergic neurons. The researchers will screen FDA and EMA approved drugs to identify any positive effects on these patient-derived neuronal cells, utilizing various biochemical, optical, and morphological measures. If successful, confirmed positive drug candidates may be used for compassionate off-label treatment in Leigh syndrome patients who lack standard treatment options.
Why it matters
Potential benefit: If successful, this approach could provide new treatment options for patients suffering from Leigh syndrome.
How similar studies have gone: While drug repurposing has shown promise in other studies, this specific approach using iPSCs for Leigh syndrome is relatively novel and untested.
Who can join: the full rules
Show full inclusion / exclusion criteria
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
Where it's running
-
Universitätsklinikum Düsseldorf
Düsseldorf, North Rhine-Westphalia, Germany Recruiting -
Charite - Universtaetsmedizin Berlin
Berlin, State of Berlin, Germany Recruiting
Study contacts
- Principal investigator: Markus Schuelke, MD — Charite - Universitaetsmedizin Berlin
- Study coordinator: Markus Schuelke, MD
- Email: markus.schuelke@charite.de
- Phone: +49 30 4505 66112
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.