{"id":19405,"date":"2022-04-04T10:38:23","date_gmt":"2022-04-04T10:38:23","guid":{"rendered":"https:\/\/fundacionnoelia.org\/proyectos-de-investigacion\/historia-natural-diagnostico-y-tratamiento-de-las-distrofias-musculares-por-deficit-de-colageno-vi\/"},"modified":"2022-04-04T11:52:36","modified_gmt":"2022-04-04T11:52:36","slug":"natural-history-diagnosis-and-treatment-of-collagen-vi-related-muscular-dystrophies","status":"publish","type":"page","link":"https:\/\/fundacionnoelia.org\/en\/research-projects\/natural-history-diagnosis-and-treatment-of-collagen-vi-related-muscular-dystrophies\/","title":{"rendered":"Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies"},"content":{"rendered":"[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space]
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NATURAL HISTORY, DIAGNOSIS AND TREATMENT OF COLLAGEN VI-RELATED MUSCULAR DYSTROPHIES<\/h2>\n[\/vc_column_text][vc_empty_space][vc_column_text]\n

Project description<\/strong>
\nThe project includes:<\/strong><\/p>\n

Application of CRISPR-Cas9 technology:<\/strong>\u00a0Investigating the application of gene editing technology to dominant mutations in collagen-VI genes. It is based on the use of specifically designed RNA molecules that guide the Cas9 nuclease to the desired sequence, so that it is cut off. It constitutes one more step towards finding a cure for the disease.<\/p>\n

Contribution to ongoing diagnosis:<\/strong>\u00a0Evaluating the production and secretion of collagen VI in primary cultures of fibroblasts as a diagnostic and prognostic tool.<\/p>\n

Identification and validation of new biomarkers in blood and tissue.<\/strong><\/p>\n

Understanding the Natural History of the disease<\/strong>\u00a0through regular monitoring, the use of standardized scales and other functional tests, which objectively measure physical capacity and other aspects such as the quality of life of the patients. The scales have been validated internationally, but they are not being systematically applied in Spain. All those affected by Col-VI CMD can access these tests, which will contribute to a broader understanding of the disease in both a general way and also individually, according to the mutation. These data are key to the design and development of future clinical trials.<\/p>\n

Creation of a National Patient Registry:<\/strong>\u00a0The Registry has been designed by the Hospital Sant Joan de D\u00e9u and the Hospital de Sant Pau in Barcelona, based on the registry and patient questionnaire of Cure CMD (International Registry of Muscular Dystrophies). This registry will allow segmenting patients with the purpose of facilitating and supporting biomedical, basic and clinical research. The results of this research shall be applied to the diagnosis, prognosis and improvement of patient care and will contribute to research as clinical trials can translate in future treatments.<\/p>\n

Duration:<\/strong>
\nPhase I.<\/strong>\u00a02017-2019.. Detailed Report Phase I<\/a>
\nPhase II.<\/strong>\u00a02019-2021. Detailed Report Phase II<\/a><\/p>\n

Investment:<\/strong>
\nPhase I.<\/strong>\u00a0 Total project budget is\u00a0\u20ac 134,925<\/strong>
\nPhase II.<\/strong>\u00a0Total project budget is\u00a0\u20ac 144,000<\/strong><\/p>\n

Contributions made by Noelia Foundation:<\/strong>
\nMay 15, 2017:\u00a0\u20ac 52,000. <\/strong> Proof of transfer.<\/a>
\nApril 19, 2018:\u20ac 30.000. <\/strong> Proof of transfer.<\/a>
\nSeptember 19, 2018:\u00a0\u20ac\u00a037.500<\/strong>. Proof of transfer.<\/a>
\nJune\u00a020, 2019:\u00a0\u20ac 44.000.\u00a0<\/strong>\u00a0Proof of transfer.<\/a><\/p>\n

Research site:<\/strong>
\nHospital Sant Joan de D\u00e9u (Barcelona)<\/p>\n

Project directed by:<\/strong>
\nDr. Cecilia Jim\u00e9nez Mallebrera
\nDr. Andr\u00e9s Nascimento Osorio<\/p>\n

Proyecto Historia Natural, diagn\u00f3stico y tratamiento de las Distrofias Musculares por d\u00e9ficit en colageno VI \u2013 FASE I.<\/a>
\nProyecto Historia Natural, diagn\u00f3stico y tratamiento de las Distrofias Musculares por d\u00e9ficit en colageno VI \u2013 FASE II.<\/a>
\nAnexo Registro Nacional y Escalas.<\/a>
\nConvenio Colaboraci\u00f3n Hospital Sant Joan de D\u00e9u y Fundaci\u00f3n Noelia. Mayo 2017.<\/a>
\nConvenio Colaboraci\u00f3n Hospital Sant Joan de D\u00e9u y Fundaci\u00f3n Noelia. Abril 2018.<\/a>
\nConvenio Colaboraci\u00f3n Hospital Sant Joan de D\u00e9u y Fundaci\u00f3n Noelia. Septiembre 2018.<\/a>
\nConvenio Colaboraci\u00f3n Hospital Sant Joan de D\u00e9u y Fundaci\u00f3n Noelia. Junio 2019.<\/a><\/p>\n

In collaboration with:<\/strong><\/p>\n

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[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space][vc_empty_space][vc_column_text] NATURAL HISTORY, DIAGNOSIS AND TREATMENT OF COLLAGEN VI-RELATED MUSCULAR DYSTROPHIES [\/vc_column_text][vc_empty_space][vc_column_text] Project description The project includes: Application of CRISPR-Cas9 technology:\u00a0Investigating the application of gene editing technology to dominant mutations in collagen-VI genes. It is based on the use of specifically designed RNA molecules that guide the Cas9 nuclease to the desired sequence,…<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":19389,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-19405","page","type-page","status-publish","hentry","entry","no-media"],"yoast_head":"\nNatural History, diagnosis and treatment of collagen VI-related muscular dystrophies - 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\/research-projects\/natural-history-diagnosis-and-treatment-of-collagen-vi-related-muscular-dystrophies\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies - Fundaci\u00f3n Noelia\" \/>\n<meta property=\"og:description\" content=\"[vc_row][vc_column width=”1\/6″][\/vc_column][vc_column width=”4\/6″][vc_empty_space][vc_empty_space][vc_column_text] NATURAL HISTORY, DIAGNOSIS AND TREATMENT OF COLLAGEN VI-RELATED MUSCULAR DYSTROPHIES [\/vc_column_text][vc_empty_space][vc_column_text] Project description The project includes: Application of CRISPR-Cas9 technology:\u00a0Investigating the application of gene editing technology to dominant mutations in collagen-VI genes. 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