{"id":43,"date":"2025-12-04T20:03:24","date_gmt":"2025-12-04T20:03:24","guid":{"rendered":"https:\/\/www.ptcbio.ca\/fr\/therapeutic-areas\/"},"modified":"2026-02-19T15:38:07","modified_gmt":"2026-02-19T20:38:07","slug":"domaines-therapeutiques","status":"publish","type":"page","link":"https:\/\/www.ptcbio.ca\/fr\/domaines-therapeutiques\/","title":{"rendered":"Domaines th\u00e9rapeutiques"},"content":{"rendered":"<div class=\"hero-header__outer-container\">\n\n\t<div class=\"hero hero--styled color-theme--denim-blue hero--has-image hero--normal-spacing\">\n\t\t\t\t\t\t\t\t\t\t<div class=\"hero__inner hero__inner--left\">\n\t\t\t<div class=\"hero__content hero__content--left hero__content--has-image\">\n\t\t\t\t\t\t\t\t\t\t\t\t<div class=\"hero__eyebrow\">Domaines th\u00e9rapeutiques<\/div>\n\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=\"\">Maladies dans notre mire que nous avons pour mission de changer<\/h1><\/div>\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t\t\t<figure class=\"hero__image-wrapper hero__image-wrapper--left\">\n\t\t\t\t\t\t\t\t\t<img loading=\"lazy\" decoding=\"async\" width=\"548\" height=\"540\" src=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/fcs600.png\" class=\"hero__image\" alt=\"Patient Living with FCS\" srcset=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/fcs600.png 548w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/fcs600-300x296.png 300w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/fcs600-400x394.png 400w\" sizes=\"auto, (max-width: 548px) 100vw, 548px\" \/>\t\t\t\t\t\t\t\t<\/figure>\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--shallow\"\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:\/\/www.ptcbio.ca\/fr\/\">\n\t\t\t\t\t\t\t<span class=\"sr-only\" itemprop=\"name\">Page D&rsquo;accueil<\/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\" \/>\n\t\t\t\t<\/li>\n\t\t\t\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\t\t\t\t\t\t\t<span\n\t\t\t\t\t\t\t\tclass=\"breadcrumbs__current\" itemprop=\"item\"\n\t\t\t\t\t\t\t\taria-current=\"page\"\t\t\t\t\t\t\t>\n\t\t\t\t\t\t\t\t<span itemprop=\"name\">Domaines th\u00e9rapeutiques<\/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=\"2\" \/>\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<p class=\"core-block core-paragraph\">Nous sommes profond\u00e9ment engag\u00e9s envers les patients atteints de maladies rares qui ont peu ou pas d\u2019options de traitement, et cette passion nous alimente et nous inspire. Nos efforts commerciaux et de d\u00e9veloppement se concentrent sur deux domaines th\u00e9rapeutiques \u2013 la neurologie et les maladies m\u00e9taboliques \u2013 o\u00f9 nous avons une vaste exp\u00e9rience et un solide bilan de r\u00e9ussite.<\/p>\n\n\n\n<div style=\"--mg-spacer-desktop: 32px; --mg-spacer-mobile: 16px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/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=\"\">Ph\u00e9nylc\u00e9tonurie (PCU)<\/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>Affection m\u00e9tabolique caus\u00e9e par des mutations du g\u00e8ne codant la ph\u00e9nylalanine-hydroxylase, qui peut entra\u00eener des troubles cognitifs et des crises convulsives<\/p>\n\t\t<\/div>\n\n\t\t\n\t\t\n\t<\/div>\n<\/div>\n\n\n\n\n<div style=\"--mg-spacer-desktop: 32px; --mg-spacer-mobile: 16px; height: var(--mg-spacer-desktop);\" aria-hidden=\"true\" class=\"mg-spacer--responsive wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-image alignright size-full is-resized is-style-lightbox\"><img loading=\"lazy\" decoding=\"async\" width=\"2543\" height=\"2560\" src=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-scaled.jpg\" alt=\"PKU Symptoms\" class=\"wp-image-17795\" style=\"aspect-ratio:0.9936938658513281;width:325px;height:auto\" srcset=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-scaled.jpg 2543w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-298x300.jpg 298w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-1017x1024.jpg 1017w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-150x150.jpg 150w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-768x773.jpg 768w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-1526x1536.jpg 1526w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-2035x2048.jpg 2035w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-400x403.jpg 400w\" sizes=\"auto, (max-width: 2543px) 100vw, 2543px\" \/><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=\"2543\" height=\"2560\" src=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-scaled.jpg\" class=\"attachment-full size-full\" alt=\"PKU Symptoms\" hidden=\"\" loading=\"eager\" srcset=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-scaled.jpg 2543w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-298x300.jpg 298w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-1017x1024.jpg 1017w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-150x150.jpg 150w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-768x773.jpg 768w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-1526x1536.jpg 1526w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-2035x2048.jpg 2035w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-symptoms-fr-400x403.jpg 400w\" sizes=\"(max-width: 2543px) 100vw, 2543px\" \/><\/button><\/figure>\n\n\n\n<p class=\"core-block core-paragraph\"><strong><strong>Qu\u2019est-ce que la ph\u00e9nylc\u00e9tonurie?<\/strong><\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">La ph\u00e9nylc\u00e9tonurie (PCU) est une maladie m\u00e9tabolique rare et h\u00e9r\u00e9ditaire qui touche le cerveau<sup>1<\/sup>. Elle est caus\u00e9e par un d\u00e9faut dans le g\u00e8ne qui aide \u00e0 produire l\u2019enzyme n\u00e9cessaire pour d\u00e9composer la ph\u00e9nylalanine<sup>1<\/sup>. Si elle n\u2019est pas trait\u00e9e ou est mal g\u00e9r\u00e9e, la ph\u00e9nylalanine \u2013 un acide amin\u00e9 essentiel pr\u00e9sent dans toutes les prot\u00e9ines et la plupart des aliments \u2013 peut s\u2019accumuler jusqu\u2019\u00e0 des niveaux nocifs dans le corps<sup>1<\/sup>. Cela peut causer des incapacit\u00e9s graves et irr\u00e9versibles, comme une d\u00e9ficience intellectuelle permanente, des crises convulsives, un retard de d\u00e9veloppement, une perte de m\u00e9moire et des probl\u00e8mes de comportement et \u00e9motionnels<sup>1<\/sup>.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Les nouveau-n\u00e9s atteints de PCU n\u2019ont g\u00e9n\u00e9ralement pas de sympt\u00f4mes au d\u00e9but, mais les sympt\u00f4mes s\u2019aggravent souvent avec le temps, et les dommages caus\u00e9s par des niveaux toxiques de ph\u00e9nylalanine au cours des premi\u00e8res ann\u00e9es de vie sont irr\u00e9versibles<sup>2,3<\/sup>.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Le diagnostic de la ph\u00e9nylc\u00e9tonurie se fait habituellement dans le cadre des programmes de d\u00e9pistage n\u00e9onatal<sup>4<\/sup>.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\"><\/p>\n\n\n\n<p class=\"core-block core-paragraph\"><strong><strong>\u00c0 quelle fr\u00e9quence la ph\u00e9nylc\u00e9tonurie survient-elle?<\/strong><\/strong>&nbsp;<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">On estime qu\u2019il y a 58&nbsp;000&nbsp;personnes atteintes de ph\u00e9nylc\u00e9tonurie dans le monde. Les hommes et les femmes sont \u00e9galement susceptibles d\u2019h\u00e9riter du g\u00e8ne d\u00e9fectueux et de d\u00e9velopper la ph\u00e9nylc\u00e9tonurie.<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"2560\" height=\"601\" src=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-scaled.jpg\" alt=\"How Common is PKU\" class=\"wp-image-17794\" style=\"width:676px;height:auto\" srcset=\"https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-scaled.jpg 2560w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-300x70.jpg 300w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-1024x241.jpg 1024w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-768x180.jpg 768w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-1536x361.jpg 1536w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-2048x481.jpg 2048w, https:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/pku-how-common-400x94.jpg 400w\" sizes=\"auto, (max-width: 2560px) 100vw, 2560px\" \/><\/figure>\n\n\n\n<div style=\"--mg-spacer-desktop: 32px; --mg-spacer-mobile: 16px; 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:\/\/www.ptcbio.ca\/fr\/wp-content\/uploads\/sites\/28\/2026\/02\/NeilSmith.png\" class=\"quote-block__image\" alt=\"Neil Smith\"\/>\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\tNos recherches montrent qu\u2019il existe une grande communaut\u00e9 de patients atteints de PCU qui ont besoin de plus d\u2019options de traitement. Nous avons \u00e9galement \u00e9tabli des relations \u00e9troites au sein de cette communaut\u00e9, notamment avec des patients et des organismes de d\u00e9fense des droits. Aider cette communaut\u00e9 est \u00e0 la fois ma mission et ma motivation, et ma confiance en la science m\u2019aide \u00e0 rester concentr\u00e9 et \u00e0 continuer d\u2019avancer.\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\tNeil Smith\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\tChef de projet mondial sur la PCU pour PTC\t\t\t<\/cite>\n\t\t\t<\/div>\n\n<\/div>\n\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\tR\u00e9f\u00e9rences\t\t\t<\/div>\n\t\t\n\t\t<div class=\"references-block__content wysiwyg wysiwyg--pure\">\n\t\t\t<p>[1] de Groot MJ, Hoeksma M, Blau N, et al.\u00a0Mol Genet Metab\u00a02010;99:S86\u2013S89.<\/p>\n<p>[2] Phenylketonuria (PKU). Disponible \u00e0 l\u2019adresse : https:\/\/www.mayoclinic.org\/diseases-conditions\/phenylketonuria\/symptoms-causes\/syc-20376302. Consult\u00e9 en octobre\u00a02021.<\/p>\n<p>[3] Blau N, van Spronsen FJ, Levy HL. Lancet 2010;376:1417\u20131427.<\/p>\n<p>[4] Al Hafid N, Christodoulou J. Transl Pediatr 2015;4(4):304\u2013317.<\/p>\n\t\t<\/div>\n\t<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>Nous sommes profond\u00e9ment engag\u00e9s envers les patients atteints de maladies rares qui ont peu ou pas d\u2019options de traitement, et cette passion nous alimente et nous inspire. Nos efforts commerciaux et de d\u00e9veloppement se concentrent sur deux domaines th\u00e9rapeutiques \u2013 la neurologie et les maladies m\u00e9taboliques \u2013 o\u00f9 nous avons une vaste exp\u00e9rience et un&hellip;<\/p>\n","protected":false},"author":14,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"footnotes":""},"class_list":["post-43","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.2 (Yoast SEO v27.2) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>Domaines th\u00e9rapeutiques - PTC Therapeutics (Canada-French)<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.ptcbio.ca\/fr\/domaines-therapeutiques\/\" \/>\n<meta property=\"og:locale\" content=\"fr_CA\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Domaines th\u00e9rapeutiques\" \/>\n<meta property=\"og:description\" content=\"Nous sommes profond\u00e9ment engag\u00e9s envers les patients atteints de maladies rares qui ont peu ou pas d\u2019options de traitement, et cette passion nous alimente et nous inspire. 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