Central Nervous System Therapeutic Targets in Friedreich Ataxia

Ian H. Harding, PhD, David R. Lynch, Arnulf H. Koeppen, and Massimo Pandolfo, MD
Published in Human Gene Therapy, 25 Nov 2020 https://www.liebertpub.com/doi/10.1089/hum.2020.264

Because many of the major targets of long-term therapy for FA are in the central nervous system (CNS), FARA worked with several FA investigators to write an in-depth review of the pathology present in the brain and spinal cords of patients with FA. The diverse group of experts was able to evaluate evidence gathered from human clinical observations, physiological, pathological and imaging approaches, as well as studies in animal models. The resulting paper provides detailed summary of the current understanding of what areas of the spinal cord and brain are impacted by the disease, including what specific cells are vulnerable to the loss of frataxin.

Moreover, the review also provides some insight into the temporal course of neuropathological changes in the CNS, which helps to provide information on areas that may respond to therapy and be successfully treated at different timepoints during the progression of the disease.

This comprehensive review of the impact of FA in the CNS is useful to patients, caregivers, physicians, as well as drug developers, especially those planning to test therapeutics aimed at the spinal cord and/or brain. FARA effort to organize and support production of this review represents the ongoing commitment to focusing resources on filling gaps in our understanding of FA and building relationships needed to find effective treatments.