Early access
Sign in
Taking peopleNo phase

Testing existing drugs on nerve cells from people with Leigh syndrome

Screens approved drugs on lab-grown nerve cells from patients with Leigh syndrome.

Key facts

Who runs it
Charite University, Berlin, Germany
Where
Germany2 sites in 1 countryChoose a country to see its sites
Trial code
Registry title
Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells
Status
Recruiting
People taking part
80 people, planned
Started
1 Mar 2020
Expected to end
28 Feb 2030
Type of study
Observational, 2 groups
Treatments tested
  • skin biopsy
  • generation of iPSCs
  • blood drawing
  • off-label compassionate drug use
Record updated
13 May 2025

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with Leigh syndrome. Their skin cells are used to grow nerve cells in the lab to test approved drugs.

Sex
All sexes can join.
Disease stage
Leigh syndrome with the typical changes on a brain MRI scan. This can be the maternally inherited form (MILS) or a form caused by changes in the cell's nuclear DNA.
Biomarker or test result
A disease-causing change (mutation) in one of the genes that cause Leigh syndrome.

Main reasons for not taking part

  • A bleeding disorder that makes a skin biopsy (taking a small skin sample) impossible
  • Taking back consent

This trial has no sites in United States.

It has sites in one country. Choose a country to see its sites.

About the trial

What the trial wants to find out

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.

The 2 groups in the trial

  • Leigh Syndrome (Maternally Inherited, MILS)

    Patients with Leigh syndrome carrying disease-causing mutations in their mtDNA. This subtype of Leigh syndrome is called Maternally Inherited Leigh Syndrome (MILS)

    Treatment: skin biopsy, generation of iPSCs, blood drawing, and off-label compassionate drug use

  • Leigh Syndrome (AR, AD, XR)

    Patients with mitochondrial diseases that are caused by mutations in the nuclear DNA, which may be inherited in an autosomal recessive (AR), autosomal dominant (AD), or X-chromosomal recessive (XR) mode of inheritance.

    Treatment: skin biopsy, generation of iPSCs, blood drawing, and off-label compassionate drug use

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Using iPSC Derived Human Basal Ganglia Neurons From Patients With Leigh Syndrome for Metabolic Studies, Assay Development, and Drug Repurposing.
Plain-language title
Testing existing drugs on nerve cells from people with Leigh syndromeGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 15 November 2026.
Record updated
13 May 2025