{"id":14692,"date":"2023-10-16T07:00:00","date_gmt":"2023-10-16T11:00:00","guid":{"rendered":"https:\/\/www.ptcbio.com\/?p=14692"},"modified":"2023-10-10T15:52:26","modified_gmt":"2023-10-10T19:52:26","slug":"aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency","status":"publish","type":"post","link":"https:\/\/www.ptcbio.com\/posts\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\/","title":{"rendered":"AADCAware Registry: An Example of the Value that Disease Registries Bring to AADC Deficiency"},"content":{"rendered":"\n<p class=\"core-block core-paragraph\"><em>By Rafael Sierra, Executive Director, Global Medical Affairs \u2013 Global Gene Therapy Lead<\/em><\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Rare and ultra rare diseases present unique challenges for research and healthcare, especially when patients are geographically dispersed, and the condition presents with high heterogeneity. <strong>Disease registries have emerged as a valuable tool to continue understanding the disease progression and the natural history of these rare conditions in the real world. <\/strong>Such is the case for <a href=\"https:\/\/www.ptcbio.com\/therapeutic-areas\/aromatic-l-amino-acid-decarboxylase-deficiency\/\">aromatic L-amino acid decarboxylase (AADC) deficiency<\/a>, a condition characterized by impaired production of dopamine and serotonin, that will manifest in the form of impaired motor, cognitive, and language development and with autonomic dysfunction features. Registries, like AADCAware, promote data sharing and standardization of research practices across institutions and countries.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">For example, a poster presentation presented at the European Paediatric Neurology Society (EPNS) Congress this summer, led by Prof. Agathe Roubertie <em>et al.<\/em> about AADCAware, highlighted the differences across the globe on how diagnostic tests are being utilized and the symptoms observed by clinicians when they suspect and diagnose the disease. Research showed that over 80% of all patients with AADC deficiency did not achieve any motor milestones, such as holding their head, when they were diagnosed between the age of two-three years old, underscoring the need to identify and manage patients earlier in the patient journey.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Caregivers play a critical role in managing patients with rare diseases. Disease registries offer caregivers access to accurate, up-to-date information, educational materials and support networks. This empowers them to better understand the disease, provide optimal care and navigate the healthcare system more effectively.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Registries also contribute to health economic evaluations by capturing data on healthcare resource utilization, costs, outcomes and quality of life. This information helps assess the economic burden of rare diseases, evaluate the cost-effectiveness of treatments and inform reimbursement decisions.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">Participation in registries also enables researchers to monitor the efficacy and safety of treatments in the real world.<\/p>\n\n\n\n<p class=\"core-block core-paragraph\">In conclusion, rare disease and treatment registries like AADCAware can significantly benefit research efforts by providing a centralized repository of patient data, supporting natural history studies, treatment evaluations, foster collaborative research, biomarker identification and raise disease awareness. By facilitating data-driven research and fostering collaboration, we hope that this type of registry leads to improved diagnosis, treatment and quality of life of patients living with this rare disorder.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>By Rafael Sierra, Executive Director, Global Medical Affairs \u2013 Global Gene Therapy Lead Rare and ultra rare diseases present unique challenges for research and healthcare, especially when patients are geographically dispersed, and the condition presents with high heterogeneity. Disease registries have emerged as a valuable tool to continue understanding the disease progression and the natural&hellip;<\/p>\n","protected":false},"author":2,"featured_media":14693,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[11],"tags":[],"media-type":[5],"therapeutic-area":[18],"class_list":["post-14692","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-and-innovation"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v27.5 (Yoast SEO v27.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>AADCAware Registry: An Example of the Value that Disease Registries Bring to AADC Deficiency - PTC Therapeutics (United States)<\/title>\n<meta name=\"description\" content=\"Rafael Sierra shares his perspective on why disease registries are a valuable tool to continue understanding the disease progression and the natural history of rare conditions, like #AADCdeficiency, in the real world.\" \/>\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.com\/posts\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"AADCAware Registry: An Example of the Value that Disease Registries Bring to AADC Deficiency\" \/>\n<meta property=\"og:description\" content=\"Rafael Sierra shares his perspective on why disease registries are a valuable tool to continue understanding the disease progression and the natural history of rare conditions, like #AADCdeficiency, in the real world.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.ptcbio.com\/posts\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\/\" \/>\n<meta property=\"og:site_name\" content=\"PTC Therapeutics (United States)\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/PTCTherapeutics\" \/>\n<meta property=\"article:published_time\" content=\"2023-10-16T11:00:00+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/www.ptcbio.com\/wp-content\/uploads\/sites\/2\/2023\/10\/Rafael-Sierra-article-Newsroom.png\" \/>\n\t<meta property=\"og:image:width\" content=\"466\" \/>\n\t<meta property=\"og:image:height\" content=\"262\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"jacy\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@PTCBio\" \/>\n<meta name=\"twitter:site\" content=\"@PTCBio\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"jacy\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\\\/\"},\"author\":{\"name\":\"jacy\",\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#\\\/schema\\\/person\\\/57224bb5c2cd0a7886dfd1c249bd5b74\"},\"headline\":\"AADCAware Registry: An Example of the Value that Disease Registries Bring to AADC Deficiency\",\"datePublished\":\"2023-10-16T11:00:00+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\\\/\"},\"wordCount\":394,\"publisher\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/www.ptcbio.com\\\/posts\\\/aadcaware-registry-an-example-of-the-value-that-disease-registries-bring-to-aadc-deficiency\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/www.ptcbio.com\\\/wp-content\\\/uploads\\\/sites\\\/2\\\/2023\\\/10\\\/Rafael-Sierra-article-Newsroom.png\",\"articleSection\":[\"Science &amp; 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