Novel curative therapies for ornithine transcarbamylase (OTC) deficiency
The goal of this project is to treat the most common urea cycle defect, ornithine transcarbamylase deficiency (OTCD). This rare metabolic disease leads to hyperammonemia if untreated and may serve as a model for hepatic inherited defects.
The interdisciplinary approach includes studies to test pharmachaperons for OTC enzyme stabilization, followed by a “proof of concept” study with selected OTCD patients.
Furthermore, we will evaluate non-viral naked-DNA vector gene transfer to the liver as a safe treatment of OTCD patients. With this, we aim for novel curative therapies in newborns affected by this disease. Furthermore, our approach may also prove beneficial for the treatment of other genetic liver diseases.