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“Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies”

“Natural History, diagnosis and treatment of collagen VI-related muscular dystrophies”

Project description
The project includes:

Application of CRISPR-Cas9 technology: Investigating 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.

Contribution to ongoing diagnosis: Evaluating the production and secretion of collagen VI in primary cultures of fibroblasts as a diagnostic and prognostic tool.

Identification and validation of new biomarkers in blood and tissue.

Understanding the Natural History of the disease through 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.

Creation of a National Patient Registry: The Registry has been designed by the Hospital Sant Joan de Déu 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.

Duration:
Phase I. 2017-2019. Detailed Report Phase I
Phase II. 2019-2021. Detailed Report Phase II

Investment:
Phase I.  Total project budget is € 134,925
Phase II. Total project budget is € 144,000

Contributions made by Noelia Foundation:
May 15, 2017: € 52,000. Proof of transfer.
April 19, 2018: € 30.000.  Proof of transfer.
September 19, 2018: € 37.500.  Proof of transfer.
June 20, 2019: € 44.000.  Proof of transfer.

Research site:
Hospital Sant Joan de Déu (Barcelona)

Project directed by:
Dr. Cecilia Jiménez Mallebrera
Dr. Andrés Nascimento Osorio

 

• Proyecto Historia Natural, diagnóstico y tratamiento de las Distrofias Musculares por déficit en colageno VI – FASE I.
• Proyecto Historia Natural, diagnóstico y tratamiento de las Distrofias Musculares por déficit en colageno VI – FASE II.
• Anexo Registro Nacional y Escalas.
• Convenio Colaboración Hospital Sant Joan de Déu y Fundación Noelia. Mayo 2017.
• Convenio Colaboración Hospital Sant Joan de Déu y Fundación Noelia. Abril 2018.
• Convenio Colaboración Hospital Sant Joan de Déu y Fundación Noelia. Septiembre 2018.
• Convenio Colaboración Hospital Sant Joan de Déu y Fundación Noelia. Junio 2019.

 

 

equipo_proyecto_historia_naturalfoto donacio xec simbolic 52.000

 

190724_Sant_Joan_Deu_02

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