Repurposing existing drugs for treating Leigh syndrome using patient-derived cells
Using iPSC Derived Human Basal Ganglia Neurons From Patients With Leigh Syndrome for Metabolic Studies, Assay Development, and Drug Repurposing.
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 |
|---|---|
| Enrollment | 80 (estimated) |
| Sex | All |
| Sponsor | Charite University, Berlin, Germany Academic / other |
| Locations | 2 sites (Düsseldorf, North Rhine-Westphalia and 1 other locations) |
| Trial ID | NCT06967831 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are patients diagnosed with Leigh syndrome who have specific disease-causing mutations.
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.
Why it matters
Potential benefit: If successful, this approach could provide new treatment options for patients suffering from Leigh syndrome.
How similar studies have performed: While drug repurposing has shown promise in other studies, this specific approach using iPSCs for Leigh syndrome is relatively novel and untested.
Eligibility criteria
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 this trial is running
Düsseldorf, North Rhine-Westphalia and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.