Mitochondrial Enzyme Activity and Biomarker Evaluation in FA Treatment (MEABET-FA)

This project aims at understanding a specific aspect of FA related to how cells generate energy, by focusing on the activity of specific enzymes in the blood that are essential for energy production. Dr Stovickova’s previous research revealed that two specific enzymes that are crucial to these energy-producing activities are lower in the blood of FA patients compared to healthy individuals. With this grant, Dr Stovickova and her group plan to measure how the activity of these enzymes changes over time by examining 220 blood samples from FA patients and healthy individuals. This study involves two sites, one at Motol University Hospital in Prague and one at the Children’s Hospital of Philadelphia. Every 6 months for 18 months, participants will be examined to gather health information, and their blood drawn to measure the activity of these enzymes. This research is anticipated to provide a clearer understanding of how FA impacts energy production in cells and is part of a larger mission to discover new methods for tracking FA progression and assessing the effectiveness of new drugs in clinical trials, paving the way for new treatments.