SHIFT-FA – Study of Heterogeneity in Friedreich’s Ataxia Trajectories

Friedreich’s ataxia (FA) is caused by the same genetic mutation in all patients, yet the disease affects people in very different ways. Some develop symptoms early in childhood with rapid progression, while others are not affected until adulthood and experience a slower course. We know that the length of the GAA repeat in the FA gene influences symptom onset, but this only explains part of the variability. The SHIFT-FA study will enroll at least 50 patients across Germany, focusing on those with unusually early or late disease onset, including siblings who are affected differently. Researchers will examine the FA gene in detail using new genetic methods, explore environmental influences with questionnaires, and track biomarkers in the blood, such as neurofilament light chain. They will also use artificial intelligence to study speech patterns. By following patients over time, SHIFT-FA will help scientists understand what drives differences in disease progression, improve monitoring of treatment effects, and support more personalized treatment strategies for FA.