The European Friedreich Ataxia Consortium for Translational Studies (EFACTS) group suggested specific outcome measures it found to be best suited to clinical trials testing possible treatments for Friedreich’s ataxia, and emphasized that studies looking at disease-modifying therapies need to run for at least two years.
Jörg Schulz, a neurologist at RWTH Aachen University Hospital in Aachen, Germany, led the oral presentation titled “Natural history of Friedreich ataxia” that aims to improve such trials. He spoke on behalf of the EFACTS study group at the International Ataxia Research Conference (IARC) on Thursday. IARC 2017 concludes in Pisa, Italy, on Sept. 30.
Friedreich’s ataxia is caused by genetic mutations in the frataxin gene; specifically, an abnormal repeat of a GAA sequence diminishes production of the frataxin protein in cells — a protein that’s a vital component of a cell’s energy-producing organelles called mitochondria.
The disease is characterized by a progressive degeneration of the nervous system and difficulties with movement. Symptoms can first become evident during childhood or adolescence, or in early adulthood.
Increased interest and investment in Friedreich’s ataxia has led to researchers uncovering some mechanisms underlying the disease, a key achievement for the next step — developing targeted therapies that might stop disease progression and modify its course.
“To design such studies knowledge of the natural history of the disease, identification of scales and biomarkers which capture the progression of the disease is of uttermost importance,” the researchers wrote.
EFACTS set up a registry to better understand the natural history Friedreich’s ataxia, natural history being the course of a disease over time — from onset to resolution — in a person.