Friedreich’s Ataxia (FA)
What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a rare, physically debilitating, life-shortening, neuromuscular disorder that mainly affects the central nervous system and the heart.1 It is the most common hereditary ataxia (abnormal, uncoordinated movements) and is usually caused by a single genetic defect in the frataxin (FXN) gene that leads to reduced production of frataxin, a mitochondrial protein that is important for cellular metabolism and energy production.1,2 Decreased frataxin levels are associated with mitochondrial iron accumulation and increased oxidative stress, which can lead to cell death through ferroptosis.3,4,5
Symptoms include progressive loss of coordination and muscle strength leading to poor balance and coordination, difficulty speaking, swallowing, and breathing, curvature of the spine, serious heart conditions, diabetes, and hearing and vision impairment.6,7 The severity of symptoms and speed of progression varies between people and some symptoms may not be evident in all. Friedreich’s ataxia is usually diagnosed in childhood or adolescence.2,8
How is PTC Working to Treat Friedreich’s Ataxia?
PTC is developing a potential treatment for FA based on our Inflammation/ferroptosis platform.
Discover stories from people living with Friedreich’s ataxia (FA)
- Read More
Finding Strength in the “Giant Family” of the FA Community
Kailey, who lives in Louisiana with her boyfriend and two dogs, was diagnosed with Friedreich’s ataxia (FA) after years of concerning… - Read More
Looking for Life’s Small Miracles
Tiffany, a mother of two who lives with Friedreich’s ataxia (FA), opens up about the challenges of navigating life with a physical… - Read More
The Importance of Sharing Your Story
For Sam, publishing his first book was nerve-wracking – it chronicled his Friedreich’s ataxia (FA) diagnosis and was therefore very… - Read More
Alex’s Day-to-Day with FA
Alex, who lives with Friedreich’s ataxia (FA), encourages others in the FA community to get involved.
[1] Lynch DR, Farmer JM, Balcer LJ, et al. Arch Neurol 2002;59(5):743–747.
[2] Campuzano V, Montermini L, Lutz Y, et al. Hum Mol Genet 1997;11(6):1771–1780.
[3] Campuzano V, et al. Hum Mol Genet. 1997;6:1771–1780.
[4] Cook A, Giunti P. Br Med Bull. 2017;124:19–30.
[5] Pandolfo M, Hausmann L. J Neurochem. 2013;126:142–146.
[6] Bürk K. Cerebellum Ataxias 2017;4:4.
[7] Cook A, Giunti P. Br Med Bull 2017;124(1):19–30.
[8] Delatycki MB, Williamson R, Forrest SM. J Med Genet 2000;37(1):1–8.
[9] Hinman A, et al. PLoS one. 2018;13:e0201369.
[10] PTC Therapeutics. EPI-743 Pre-Clinical Data Deck.
[11] Shrader WD, et al. Bioorg Med Chem Lett. 2011;21:3693–3698.
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