A new natural history study in Friedreich ataxia (FA) is now recruiting participants.
The global, multicenter, prospective, observational study that started on June 28, 2023, aims to recruit around 3000 patients with FA and healthy controls to understand the disease progression and support the development of safe and effective drugs and biological products to treat it.
Read more about the treatment of FA
The primary outcome measures of the study are changes in the Friedreich Ataxia Rating Scale, the Scale for the Assessment and Rating of Ataxia, Upright Stability scores, and FA Activities of Daily Living.
Secondary outcome measures are changes in the mean 9-hole peg test and timed 25-foot walk time and speech analysis, Ataxia Instrumented Measures clinical severity, and Lower Contrast Letter Acuity test scores.
Participants of all ages with a genetically confirmed diagnosis of FA in Australia, the United States, India, Canada, and New Zealand are sought for the study, which is sponsored by Friedreich’s Ataxia Research Alliance.
Those with an acute or ongoing medical condition other than FA, which would interfere with the study, are not eligible.
Patients who are currently participating in the Friedreich Ataxia Clinical Outcome Measures Study and the European Friedreich Ataxia Consortium for Translational Studies can also take part in the study, as can new patients with the disease and healthy controls.
As part of the study, whole blood will be collected as a one-off, and DNA samples will be retained.
The target follow-up duration of the study is 25 years.
FA is a genetic neurodegenerative disease caused by mutations in the frataxingene. This gene encodes a protein crucial for ATP synthesis in the mitochondria. When it does not function properly, cells that are most dependent on ATP, including neurons, cardiomyocytes, and pancreatic cells, are most severely affected.
Reference
Friedreich Ataxia Global Clinical Consortium UNIFIED natural history study (UNIFAI). US National Library of Medicine. Updated August 30, 2023. Accessed September 14, 2023.
