{"id":10575,"date":"2023-01-05T03:21:58","date_gmt":"2023-01-05T03:21:58","guid":{"rendered":"https:\/\/panel.ptcbio.com\/it-p2025tc\/?page_id=10575"},"modified":"2023-01-05T03:21:58","modified_gmt":"2023-01-05T03:21:58","slug":"friedreich-ataxia","status":"publish","type":"page","link":"https:\/\/panel.ptcbio.com\/it-p2025tc\/therapeutic-areas\/friedreich-ataxia\/","title":{"rendered":"Friedreich&#8217;s ataxia"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--no-image hero--normal-spacing\">\n\t\t\t\t\t\t<div class=\"hero__bg\">\n\t\t\t<div id=\"particles-js\" class=\"hero__constellation hero__constellation--center\"><\/div>\n\t\t<\/div>\n\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--center\">\n\t\t\t<div class=\"hero__content hero__content--center hero__content--no-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"u-mt-1 u-my-2\"><h1 class=\"hero__title hero__title--standard\" data-ptc-fitty=\"\">Friedreich&#8217;s Ataxia (FA)<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__subtitle\">Rare,\u00a0inherited, progressive disease resulting from mitochondrial dysfunction<\/div>\n\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t\t<div class=\"hero__breadcrumbs\"><nav\n\tclass=\"breadcrumbs breadcrumbs--deep\"\n\taria-label=\"Breadcrumb\"\n>\n\t<ol class=\"breadcrumbs__list\" itemscope itemtype=\"https:\/\/schema.org\/BreadcrumbList\">\n\t\t\t\t\t\t\t\t\t<li class=\"breadcrumbs__crumb breadcrumbs__crumb--light\" itemscope itemprop=\"itemListElement\" itemtype=\"https:\/\/schema.org\/ListItem\">\n\t\t\t\t\t\t\t\t\t\t\t<a class=\"breadcrumbs__link breadcrumbs__link--home breadcrumbs__link--light\" itemprop=\"item\" href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Homepage<\/span>\n\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"1\" 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itemprop=\"name\">Friedreich&#8217;s ataxia<\/span>\n\t\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<meta itemprop=\"position\" content=\"3\" \/>\n\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ol>\n<\/nav>\n<\/div>\n\t<\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-what-is-friedreich-s-ataxia-nbsp\">What is Friedreich&#8217;s Ataxia?&nbsp;<\/h4>\n\n\n\n<figure class=\"wp-block-image alignright size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"627\" height=\"631\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms.jpg\" alt=\"Friedreich Ataxia symptoms\" class=\"wp-image-15586\" style=\"width:394px;height:auto\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms.jpg 627w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-298x300.jpg 298w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-150x150.jpg 150w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-400x403.jpg 400w\" sizes=\"auto, (max-width: 627px) 100vw, 627px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img fetchpriority=\"high\" decoding=\"async\" width=\"627\" height=\"631\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms.jpg\" class=\"attachment-full size-full\" alt=\"Friedreich Ataxia symptoms\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms.jpg 627w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-298x300.jpg 298w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-150x150.jpg 150w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-Symptoms-400x403.jpg 400w\" sizes=\"(max-width: 627px) 100vw, 627px\" \/><\/button><\/figure>\n\n\n\n<p class=\"core-block core-paragraph\">Friedreich&#8217;s ataxia (FA) is a rare, physically debilitating, life-shortening, neuromuscular disorder that mainly affects the central nervous system and the heart.<sup>1<\/sup> 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.<sup>1,2<\/sup> Decreased frataxin levels are associated with mitochondrial iron accumulation and increased oxidative stress, which can lead to cell death through ferroptosis.<sup>3,4,5<\/sup><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">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.<sup>6,7<\/sup> The severity of symptoms and speed of progression varies between people and some symptoms may not be evident in all. Friedreich&#8217;s ataxia is usually diagnosed in childhood or adolescence.<sup>2,8<\/sup><\/p>\n\n\n\n<div style=\"--mg-spacer-desktop: 34px; --mg-spacer-mobile: 17px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n\n<h4 class=\"wp-block-heading\" id=\"h-how-is-ptc-working-to-treat-friedreich-s-ataxia-nbsp\">How is PTC Working to Treat Friedreich&#8217;s Ataxia?&nbsp;<\/h4>\n\n\n\n<p class=\"core-block core-paragraph\">PTC is developing a potential treatment for&nbsp;FA based on our <a href=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/our-science\/inflammation-and-ferroptosis\/\">Inflammation &amp; Ferroptosis platform<\/a>.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"669\" height=\"322\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA.jpg\" alt=\"Friedreich Ataxia Facts\" class=\"wp-image-15595\" style=\"width:385px;height:auto\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA.jpg 669w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-300x144.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-400x193.jpg 400w\" sizes=\"auto, (max-width: 669px) 100vw, 669px\" \/><button class=\"modal-toggle\" type=\"button\" data-bs-toggle=\"modal\" data-bs-target=\"#mg-image-modal\" aria-label=\"View image in lightbox\"><img decoding=\"async\" width=\"669\" height=\"322\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA.jpg\" class=\"attachment-full size-full\" alt=\"Friedreich Ataxia Facts\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA.jpg 669w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-300x144.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/FA-400x193.jpg 400w\" sizes=\"(max-width: 669px) 100vw, 669px\" \/><\/button><\/figure>\n\n\n\n<div style=\"--mg-spacer-desktop: 34px; --mg-spacer-mobile: 17px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n\n<div  class=\"quote-block quote-block--image color-theme--light-blue\">\n\n\t\t\t<img decoding=\"async\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2024\/06\/Briana-Johnson.jpg\" class=\"quote-block__image\" alt=\"Briana L. Johnson - PTC\"\/>\n\t\n\t<div class=\"quote-block__content\">\n\t\t<blockquote class=\"quote-block__text color-theme-border--light-blue\">\n\t\t\t<div class=\"quote-block__heading heading--4\">\n\t\t\t\tI am very passionate about helping to improve the quality of life of those living with FA. Through working with PTC\u2019s Patient Engagement team, I had the opportunity to attend and support several advocacy events in the FA community. Getting to know this community of patients and families has been so fulfilling; they are my motivation.\t\t\t<\/div>\n\t\t<\/blockquote>\n\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--name\">\n\t\t\t\tBriana L. Johnson\t\t\t<\/cite>\n\t\t\n\t\t\t\t\t<cite class=\"quote-block__author quote-block__author--title\">\n\t\t\t\tManager, Clinical Operations, PTC\u200b\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\n\n\n\n<div style=\"--mg-spacer-desktop: 34px; --mg-spacer-mobile: 17px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n<div class=\"alignfull wp-block-acf-seven-five-split\">\t<div class=\"seven-five__inner container container--padded container--max-width seven-five__inner--center seven-five__inner--right\">\n\t\t<div class=\"seven-five__wrapper\">\n\t\t\t\n\t\t\t\t\t\t\t<h3 class=\"seven-five__heading heading--3\">Hear from patients and caregivers impacted by FA on our My VIBE podcast<\/h3>\n\t\t\t\n\t\t\t\n\t\t\t<ul class=\"im-cta__list\">\n\t\t\t<li class=\"im-cta__item\">\n\t\t\t<a href=\"https:\/\/insightful-moments-my-vibe.simplecast.com\/episodes\/friedreichs-ataxia-symposium-part-1-VmOMgsfw\" target=\"\" class=\"im-cta__link\">\n\t\t\t\t<span class=\"im-cta__text\">Physical and mental health<\/span>\n\t\t\t\t<span class=\"im-cta__icon\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/a>\n\t\t<\/li>\n\t\t\t<li class=\"im-cta__item\">\n\t\t\t<a href=\"https:\/\/insightful-moments-my-vibe.simplecast.com\/episodes\/friedreichs-ataxia-symposium-part-2-gi544XEO%20\" target=\"\" class=\"im-cta__link\">\n\t\t\t\t<span class=\"im-cta__text\">Transformation into advocates<\/span>\n\t\t\t\t<span class=\"im-cta__icon\" aria-hidden=\"true\"><\/span>\n\t\t\t<\/a>\n\t\t<\/li>\n\t<\/ul>\n\t\t<\/div>\n\n\t\t\t\t\t<div class=\"seven-five__image-outer\" >\n\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"768\" height=\"322\" src=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-768x322.jpg\" class=\"seven-five__image\" alt=\"MyVIBE Logo\" sizes=\"auto, (min-width: 1920px) 576px, (min-width: 1440px) 552px, (min-width: 1200px) 456px, (min-width: 900px) 344px, (min-width: 768px) 720px, (min-width: 600px) 540px, 100vw\" srcset=\"https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-768x322.jpg 768w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-300x126.jpg 300w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-1024x430.jpg 1024w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-1536x644.jpg 1536w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-400x168.jpg 400w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM-1920x807.jpg 1920w, https:\/\/panel.ptcbio.com\/it-p2025tc\/wp-content\/uploads\/sites\/21\/2023\/01\/MyVIBE-Horiz-Blue-Logo-TM.jpg 1924w\" \/>\t\t\t<\/div>\n\t\t\n\t<\/div>\n<\/div>\n\n\n<div style=\"--mg-spacer-desktop: 34px; --mg-spacer-mobile: 17px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n\n<div  class=\"references-block color-theme--purple-steel\">\n\t<div class=\"references-block__wrapper\">\n\n\t\t\t\t\t<div class=\"references-block__title heading--6\">\n\t\t\t\tReferences\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] Lynch DR, Farmer JM, Balcer LJ, et al. Arch Neurol\u202f2002;59(5):743\u2013747.<\/p>\n<p>[2] Campuzano V, Montermini L, Lutz Y, et al. Hum Mol Genet 1997;11(6):1771\u20131780.<\/p>\n<p>[3] Campuzano V, et al. Hum Mol Genet. 1997;6:1771\u20131780.<\/p>\n<p>[4] Cook A, Giunti P. Br Med Bull. 2017;124:19\u201330.<\/p>\n<p>[5] Pandolfo M, Hausmann L. J Neurochem. 2013;126:142\u2013146.<\/p>\n<p>[6] B\u00fcrk K. Cerebellum Ataxias 2017;4:4.<\/p>\n<p>[7] Cook A, Giunti P. Br Med Bull 2017;124(1):19\u201330.<\/p>\n<p>[8] Delatycki MB, Williamson R, Forrest SM.\u202fJ Med Genet 2000;37(1):1\u20138.<\/p>\n<p>[9] Hinman A, et al. PLoS one. 2018;13:e0201369.<\/p>\n<p>[10] PTC Therapeutics. EPI-743 Pre-Clinical Data Deck.<\/p>\n<p>[11] Shrader WD, et al. Bioorg Med Chem Lett. 2011;21:3693\u20133698.<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n\n\n<div  class=\"text-block text-block--standard color-theme--sky-blue-partial\">\n\t\t<div class=\"text-block__wrapper\" >\n\n\t\t\n\t\t\t\t\t<h2 class=\"text-block__heading\">\n\t\t\t\t<span class=\"heading--2\"  data-ptc-fitty=\"\">Do you have questions?<\/span>\n\t\t\t<\/h2>\n\t\t\n\t\t<div class=\"text-block__content wysiwyg--decoration wysiwyg--color\">\n\t\t\t<p><span class=\"NormalTextRun SCXP77754502 BCX0\">Please reach out if you would like to speak with\u00a0<\/span><span class=\"NormalTextRun SCXP77754502 BCX0\">us.<\/span><\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\t<div class=\"dual-cta__ctas dual-cta__ctas--same dual-cta__ctas--center\">\n\n\t\t\t\t\t<a href=\"mailto:PatientInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Patients and Families<\/a>\n\t\t\n\t\t\t\t\t<a href=\"mailto:MedInfo@ptcbio.com\" target=\"\" class=\"dual-cta__button btn btn--primary\">Healthcare Professionals<\/a>\n\t\t\n\t\t\n\t<\/div>\n\n\t<\/div>\n<\/div>\n\n","protected":false},"excerpt":{"rendered":"<p>What is Friedreich&#8217;s Ataxia?&nbsp; Friedreich&#8217;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&hellip;<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":9951,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-10575","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - 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