CONFERENCE
Tenured Professor Ph.D. Una Riekstiņa from the Faculty of Medicine and Life Sciences of the University of Latvia is participating in the European Rare Diseases Research Alliance (ERDERA) Joint Transnational Call 2025 with the project ‘Towards Synergistic Treatment for Leigh Syndrome Spectrum Disorders (SynLeigh)’.
Mitochondrial diseases include a spectrum of rare genetic conditions caused by dysfunction in the cell’s energy producing organelles. A severe form of mitochondrial disease is represented by Leigh syndrome spectrum (LSS) disorders. LSS disorders affect 1:40,000 live births causing neurodevelopmental delay, movement impairment, and early death. Most LSS forms are currently incurable.
The Consortium SynLeigh aims to identify therapeutic interventions and their potential synergy to develop a roadmap for developing clinical trials for LSS.
SynLeigh will be built in close collaboration with patient advocacy organizations (PAOs). Members of our consortium previously discovered two potential therapeutics for which they have already obtained orphan drug designation (ODD) for their use in LSS. We will leverage these findings to assess the effectiveness and toxicity of these molecules and their possible synergy. We will employ complementary approaches using patient-derived human models (including neurons, brain organoids, blood-brain barrier, and Organs-on-chip technologies), followed by validations and toxicology assessment in small and large animal models, and computational integrations. We have already initiated to engage with the European Medicine Agency (EMA) and their indications will guide our experimental design to collect findings that are deemed satisfactory by the regulators. Altogether, we aim to provide a mechanistic understanding and practical strategy for the establishment of treatments for individuals affected by currently incurable LSS disorders.
More information about the ERDERA Joint Transnational Call 2025 is available at:
https://erdera.org/call/joint-transnational-call-2025/
