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Recruiting NCT06967831

NCT06967831 Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

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Clinical Trial Summary
NCT ID NCT06967831
Status Recruiting
Phase
Sponsor Charite University, Berlin, Germany
Condition Leigh Syndrome (Maternally Inherited, MILS)
Study Type OBSERVATIONAL
Enrollment 80 participants
Start Date 2020-03-01
Primary Completion 2030-02-28

Eligibility & Interventions

Sex All sexes
Min Age N/A
Max Age N/A
Study Type OBSERVATIONAL
Interventions
skin biopsygeneration of iPSCsblood drawing

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 80 participants in total. It began in 2020-03-01 with a primary completion date of 2030-02-28.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief 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 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

Contact & Investigator

Central Contact

Markus Schuelke, MD

✉ markus.schuelke@charite.de

📞 +49 30 4505 66112

Principal Investigator

Markus Schuelke, MD

PRINCIPAL INVESTIGATOR

CHARITE - UNIVERSITAETSMEDIZIN BERLIN

Frequently Asked Questions

Who can join the NCT06967831 clinical trial?

This trial is open to participants of all sexes, studying Leigh Syndrome (Maternally Inherited, MILS). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT06967831 currently recruiting?

Yes, NCT06967831 is actively recruiting participants. Contact the research team at markus.schuelke@charite.de for enrollment information.

Where is the NCT06967831 trial being conducted?

This trial is being conducted at Düsseldorf, Germany, Berlin, Germany.

Who is sponsoring the NCT06967831 clinical trial?

NCT06967831 is sponsored by Charite University, Berlin, Germany. The principal investigator is Markus Schuelke, MD at CHARITE - UNIVERSITAETSMEDIZIN BERLIN. The trial plans to enroll 80 participants.

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