Using iPSC Derived Human Basal Ganglia Neurons From Patients With Leigh Syndrome for Metabolic Studies, Assay Development, and Drug Repurposing.

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Drug, Other, Procedure, Diagnostic test
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: f
Locations
Other Locations
Germany
Charite - Universtaetsmedizin Berlin
RECRUITING
Berlin
Universitätsklinikum Düsseldorf
RECRUITING
Düsseldorf
Contact Information
Primary
Markus Schuelke, MD
markus.schuelke@charite.de
+49 30 4505 66112
Backup
Alessandro Prigione, MD
alessandro.prigione@hhu.de
+49 211 81 17687
Time Frame
Start Date: 2020-03-01
Estimated Completion Date: 2030-02-28
Participants
Target number of participants: 80
Treatments
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)
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.
Related Therapeutic Areas
Sponsors
Collaborators: European Union, German Research Foundation, German Federal Ministry of Education and Research
Leads: Charite University, Berlin, Germany

This content was sourced from clinicaltrials.gov