is a natural history study to investigate brain and spinal cord changes in individuals with Friedreich ataxia. If imaging differences in the central nervous system are correlated with progression of FA, these differences could be used in future clinical trials to monitor treatment outcome.
There are 3 study visits, each approximately 12 months apart. At each study visit, participants will be asked to complete -
- Neurologic and functional testing
- Blood draw
- Brain and spinal cord MRI scan
Inclusion criteria (partial):
- Age >5 years with genetically confirmed diagnosis of FA.
- GAA repeat expansion >55 in length on both alleles of the FXN gene or GAA repeat expansion on one allele and another mutation type on the other allele (e.g., point mutation, gene deletion).
- Age of disease onset less than 25 years.
- Disease duration less than 25 years.
- Able to read and converse in English.
Exclusion criteria (partial):
- MRI contraindications such as pacemaker, other metallic surgical implants, metallic braces.
- Other ongoing medical conditions, including psychiatric and neurological diagnoses (speak with the site investigator).
Additional information can be found on the clinicaltrials.gov website (NCT04349514)
Compensation is provided for time and travel expenses.
Sites open for enrollment
University of Florida, Gainesville
Principal Investigators: Sub H Subramony, MD, Thomas Mareci, PhD, Manuela Corti, PhD
Study coordinator: Samantha Norman
Phone: (352) 273-8218
University of Minnesota, Minneapolis
Principal Investigators: Pierre-Gilles Henry, PhD, Christophe Lenglet, PhD
Study coordinator: Diane Hutter
Phone: (612) 625-2350
Children’s Hospital of Philadelphia
Principal investigators: William Gaetz, PhD, Timothy PL Robets, PhD, David Lynch, MD, PhD
Study coordinator: Leah Gaetz
Phone: (267) 275-6352
Monash University, Clayton, Victoria, Australia
Principal Investigators: Nellie Georgiou-Karistianis, PhD, Ian Harding, PhD, Louise Corben, PhD, Martin Delatycki, PhD
Study coordinator: Karen Harris
Phone: +61 3 9905 3487