{"id":20316,"date":"2017-05-17T00:00:00","date_gmt":"2017-05-17T00:00:00","guid":{"rendered":"https:\/\/fundacionnoelia.org\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/"},"modified":"2022-05-09T11:23:46","modified_gmt":"2022-05-09T11:23:46","slug":"noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital","status":"publish","type":"post","link":"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/","title":{"rendered":"Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital"},"content":{"rendered":"<p style=\"text-align: justify;\">Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital to conduct the project <strong>&#8220;Natural History, diagnosis and treatment of Collagen-VI-related muscular dystrophies<\/strong>&#8220;. The project is led by Dr. C. Jim\u00e9nez Mallebrera as principal investigator, and Dr. A. Nascimento, coordinator of the Department of Neuromuscular Pathology at the Sant Joan de D\u00e9u Children\u2019s Hospital, and is scheduled to begin next June.<\/p>\n<p style=\"text-align: justify;\"><strong>This project has several objectives:<\/strong><br \/>\n<strong>1.<\/strong> <strong>Investigate<\/strong> to what extent the application of<strong> CRISPR-Cas9<\/strong> techniques are capable of silencing negative dominant mutations through genetic editing. These mutations are responsible for the most severe forms of the disease and the underlying cause of the most common Collagen-VI muscular dystrophies. This particular approach has a very strong scientific basis and could result in a clinically applicable strategy to reverse the effects of the mutation.<\/p>\n<p style=\"text-align: justify;\"><strong>2. Evaluate<\/strong> the production and secretion of <strong>Collagen-V<\/strong>I by fibroblast primary cultures, to be used as a <strong>diagnostic and prognostic tool<\/strong>.<\/p>\n<p style=\"text-align: justify;\"><strong>3. <\/strong>Create a <strong>National Patient Registry of the disease<\/strong>. The model for this Registry has been developed by the Sant Joan de D\u00e9u Children\u2019s Hospital and the Sant Pau University Hospital in Barcelona, based on the Cure CMD Registry and questionnaire <strong>(International Registry of Muscular Dystrophies),<\/strong> so the information can be shared in order to compile an International Registry. This will allow grouping patients with the purpose of promoting and supporting basic, biomedical and clinical research, for its subsequent application in the diagnosis, prognosis, treatment and follow-up of the patients, which, in turn, shall contribute to clinical research for future treatments and cures. All this information will be stored in the National Database of Neuromuscular Disorders at <strong>CIBERER<\/strong> (Network Center for Biomedical Research of Rare Diseases), an open database that can be accessed by all scientists and clinicians who need to.<\/p>\n<p style=\"text-align: justify;\"><strong>4.<\/strong>Learn about the <strong>Natural History of the disease<\/strong> through regular monitoring, the use of standardized evaluation scales and other functional tests that can objectively measure physical capacity as well as other aspects such as patients\u2019 quality of life. These scales have been validated internationally but are not currently being applied in Spain in a systematic way. All Collagen-VI CMD patients will be able to access these tests, thus contributing to grow the knowledge on the disease, in both a general way and also individually, based on the specific mutation. This part of the project will allow patient data to be collected in a detailed and standardized way, which is critical to ensure its usability when conducting future clinical trials.<\/p>\n<p style=\"text-align: justify;\"><a href=\"https:\/\/fundacionnoelia.org\/wp-content\/uploads\/2017\/05\/IMG_20170511_154542.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignleft wp-image-3433 size-full\" src=\"https:\/\/fundacionnoelia.org\/wp-content\/uploads\/2017\/05\/IMG_20170511_154542.jpg\" alt=\"IMG_20170511_154542\" width=\"4160\" height=\"3120\" \/><\/a><\/p>\n<p><!--more--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital to conduct the project &#8220;Natural History, diagnosis and treatment of Collagen-VI-related muscular dystrophies&#8220;. The project is led by Dr. C. Jim\u00e9nez Mallebrera as principal investigator, and Dr. A. Nascimento, coordinator of the Department of Neuromuscular Pathology at the Sant Joan de D\u00e9u&hellip;<\/p>\n","protected":false},"author":1,"featured_media":3435,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[113],"tags":[],"post_series":[],"class_list":["post-20316","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-day-to-day-fundation","entry","has-media"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital - Fundaci\u00f3n Noelia<\/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:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital - Fundaci\u00f3n Noelia\" \/>\n<meta property=\"og:description\" content=\"Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital to conduct the project &#8220;Natural History, diagnosis and treatment of Collagen-VI-related muscular dystrophies&#8220;. The project is led by Dr. C. Jim\u00e9nez Mallebrera as principal investigator, and Dr. A. Nascimento, coordinator of the Department of Neuromuscular Pathology at the Sant Joan de D\u00e9u&hellip;\" \/>\n<meta property=\"og:url\" content=\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\" \/>\n<meta property=\"og:site_name\" content=\"Fundaci\u00f3n Noelia\" \/>\n<meta property=\"article:published_time\" content=\"2017-05-17T00:00:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-05-09T11:23:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/fundacionnoelia.org\/wp-content\/uploads\/2017\/05\/foto-donacio-xec-simbolic-52.000.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1976\" \/>\n\t<meta property=\"og:image:height\" content=\"1179\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"admin\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"admin\" \/>\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:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\"},\"author\":{\"name\":\"admin\",\"@id\":\"https:\/\/fundacionnoelia.org\/en\/#\/schema\/person\/251bd215dfe4e3e40da6badb9ce8adc8\"},\"headline\":\"Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital\",\"datePublished\":\"2017-05-17T00:00:00+00:00\",\"dateModified\":\"2022-05-09T11:23:46+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\"},\"wordCount\":436,\"publisher\":{\"@id\":\"https:\/\/fundacionnoelia.org\/en\/#organization\"},\"image\":{\"@id\":\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/fundacionnoelia.org\/wp-content\/uploads\/2017\/05\/foto-donacio-xec-simbolic-52.000.jpg\",\"articleSection\":[\"Day-to-day\"],\"inLanguage\":\"en-US\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\",\"url\":\"https:\/\/fundacionnoelia.org\/en\/actualidad\/noelia-foundation-signed-an-agreement-with-the-sant-joan-de-deu-childrens-hospital\/\",\"name\":\"Noelia Foundation signed an agreement with the Sant Joan de D\u00e9u Children\u2019s Hospital - 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