Currently, no specific treatments are approved for diseases caused by KARS mutations. Treatment options focus on symptom management, such as medication to control or mitigate spasticity, seizures and/or epilepsy, hearing aids for sensorineural deafness and orthopedic prostheses for physical developmental delay.

The Carlos III Health Institute will lead the project that aims to explore the therapeutic potential of replacement gene therapy by introducing and expressing a functional copy of the KARS1 gene in patient-derived induced pluripotent stem cells (iPSCs) and in KARS mouse model. This gene therapy could restore function across multiple affected systems and could provide a more comprehensive and potentially cure-oriented approach.

The approach of this research study will include functional assays to evaluate mitochondrial function, protein synthesis, and cell viability, and thereby providing critical insights into the disease mechanism and the potential efficacy of gene therapy. Our objective is that the findings from this project be used to lay the groundwork for developing novel treatments for KARS1-related disorders and similar genetic diseases affecting the CNS.

Principal Investigator:
Dr. Ignacio Pérez de Castro, Head of the Gene Therapy Unit, Instituto de Salud Carlos III (Spain)

Cure KARS’ Budget Contribution:
250.000 €

Duration:
4 years (2025 – 2028)