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Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells

NCT06967831 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2025-05-13

No results posted yet for this study

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.

Conditions

  • Leigh Syndrome (Maternally Inherited, MILS)
  • Leigh Syndrome (AR, AD, XR)

Interventions

PROCEDURE

skin biopsy

Taking a punch skin biopsy of 3 mm diameter under local anesthesia and culturing skin fibroblasts from them.

OTHER

generation of iPSCs

Using cultured skin fibroblasts of the patients, iPSCs will be generated according to standard procedures.

DIAGNOSTIC_TEST

blood drawing

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.

DRUG

off-label compassionate drug use

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.

Sponsors & Collaborators

  • European Union

    collaborator OTHER

  • German Research Foundation

    collaborator OTHER

  • German Federal Ministry of Education and Research

    collaborator OTHER_GOV

  • Charite University, Berlin, Germany

    lead OTHER

Principal Investigators

  • Markus Schuelke, MD · CHARITE - UNIVERSITAETSMEDIZIN BERLIN

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-03-01
Primary Completion
2030-02-28
Completion
2030-02-28

Countries

  • Germany

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06967831 on ClinicalTrials.gov