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Dr . Mercedes Serrano- U703 drew up the first guideline of these characteristics for Lowe Syndrome, also known as the oculocerebrorenal syndrome .
CIBERER Clinical Guidelines are regularly added to the CIBERER database (“documentation” section of the CIBERER web page or directly at
http://www .ciberer .es/index .php?option=com_docman&task=cat_view&gid=41&Itemid=194), favouring their dissemination to other CIBERER groups, healthcare professionals and the general public . .
SUPPORT FOR THE DEVELOPMENT OF THERAPEUTIC SOLUTIONS: CLINICAL TRIALS, ADVANCED THERAPIES AND ORPHAN DRUG (OD) DESIGNATION
In keeping with its strategic objectives, CIBERER facilitates and encourages its research groups to participate in national and international trials, aimed at the development and validation of therapies for RD .
In 2013, CIBERER started to more actively boost research projects in advanced therapies (gene therapy, cell therapy and tissue engineering), preclinical research projects and research on the biology of stem cells, particularly iPS cells, to allow future personalised cell therapy and regenerative medicine developments .
Furthermore, CIBERER acts as an advisor and driving force in any initiative relating to orphan drug designation that may arise from its research groups .
In 2014, CIBERER sponsored an orphan drug: “Lentiviral vector containing the liver and erythroid pyruvate kinase gene (PKLR)” for the treatment of pyruvate kinase deficiency, a hereditary disease affecting erythrocytes or red blood cell energy metabolism . The work for this declaration was led by Dr . José Carlos Segovia-U710 of CIEMAT, which is led by Dr . Juan Bueren .
PARTICIPATION IN THE “RARE DISEASE STRATEGY OF THE NATIONAL HEALTH SYSTEM”
Since it was drawn up in 2009, the Scientific Coordinator of the Strategy is Dr . Francesc Palau, Scientific Director of the CIBERER . Furthermore, CIBERER itself is represented in the Follow-up and Implementation Committee of same . CIBERER participated in the work that led to the update in 2014 of the Rare Disease Strategy of the National Health System (NHS) . This strategy update incorporates all the knowledge and data available as of today on rare diseases, which is of interest for professionals, patients and their family members .
Within the framework of the Strategy, precisely the Ministry of Health, Social Services and Equality (MSSSI) approved in 2014 eight Good Practices (GPs) on rare diseases in the National Health System (NHS) . Four of these eight GPs have been developed by CIBERER research groups: implementation of a quality management system in the HHT Unit (H . Sierrallana), which is part of U707, the Metabolic Guidelines of U703 (H . Sant Joan de Déu) and two projects relating to the coordinated RD web page www .odimet .es coordinated by the Dr . María Luz Couce-U737 (Hospital Clínico Universitario de Santiago de Compostela) .
PARTICIPATION IN THE “EUCERD JOINT ACTION:WORKING FOR RARE DISEASES”
The CIBERER takes part in the EUCERD Joint Action: Working for Rare Diseases (http://www .eucerd . eu/?page_id=284), constituted to give support to the Experts’ Committee of the EU in www .ciberer .es 35 ER (EUCERD; “ European Union Committee of Experts on Rare Diseases “, as partner and coordinator of the package of work 7 (WP7), on Vida’s Quality and Experts’ Centers .
In 2014, CIBERER continued working on this important translational activity in Europe, studying various initiatives of the Member States aimed at improving the quality of life in people suffering from a rare disease . This year the CIBERER focused on the identification of good practices existing in the health care systems of the Member States, placing particular emphasis on those activities located in the centres of expertise . Factors affecting political decisions relating to the quality of care on RDs, as well as the internal organisation of health care systems will be analyzed in the future in order to adapt them to RD policies and to patients with RDs .
34 CIBERER » Annual report 2014