Associations of patients with mucopolisacaridósis (MPS) requested regional administrations to improve access to treatment.

-The MPS are a group of inherited metabolic disorders caused by mutations that cause alterations in certain enzymes

– Las MPS occur mostly in children, with life expectancy average between 10 and 15 years of age

– many expectations to be able to repair the genetic alteration directly in bodies are made in gene therapy affected

-neonatal screening could contribute significantly to the early diagnosis of these diseases, but still must refine

Barcelona, October 2011.on Saturday October 1 was held in Barcelona the 7th National Congress Científico-Familiar of Mucopolysaccharidosis (MPS), a group of inherited metabolic diseases caused by the absence or the malfunction of certain enzymes needed for the processing of molecules called glycosaminoglycans (also called mucopolysaccharides) present in each of our cells and that they help to build bonesthe cartilage, tendons, the corneas, skin and connective tissue. This brings with it the progressive formation of accumulation and consequent impairment of vital organs. The event was organized by the Federation of associations MPS and counted with the support of the Genzyme Foundation among others.

The MPS are given exclusively in children, with life expectancy average between 10 and 15 years of age. When the disease reaches the brain of the patient, it begins to lose skills such as speech, or walking, and can be reach situations of total dependence ”, explains Jordi Cruz, President of the Federation of associations MPS. Depending on the affected enzyme, there are different syndromes. Only three of them currently have a relatively effective enzyme replacement therapy ”, says. Although they fail to cure the disease, it is true that improve the quality of life of these people in an important way ”, adds. Above all this, the expert has been highlighted the important role of the pharmaceutical industry in search of healing treatments for these diseases.

Says Dr. Mercedes Pineda, neuropediatra of Hospital Sant Joan de Déu in Barcelona, physician and Advisor to MPS Spain, in gene therapy are placed many hopes to reinstate the defective enzyme directly affected bodies ”. In this regard, at the Congress were presented the preliminary results of a possible gene therapy for syndrome Sanfilippo, one of the MPS more prevalent in our country will also be made before the project of Coenzyme Q10, a powerful antioxidant which is already used in some diseases and is starting to implement in a small number of patients with Sanfilippo syndrome to see what the positive effects are. Even though it isn’t healing, yes improves the quality of life for these patients significantly ”, says the expert.

As with the majority of rare diseases, the MPS tend to be diagnosed in very advanced stages, what is a major problem with a view to their subsequent boarding ”, says. While more severe clinical forms tend to identify the year of life, the rest of the cases may take up to five ”, according to Dr. Pineda. Neonatal screening could make an important contribution to the early diagnosis of these diseases, although still must refine ”. There are some parts of Spain where is beginning to set in motion. Main demand which makes this group of patients to the autonomous administrations has to do with access to treatments: depending on the autonomous communities concerned can spend weeks since the requested medication unless you get really ”. Similarly, the expert has stressed the importance of aid for further research in these pathologies.

The official act of inauguration of the VII Congress national Científico-Familiar of MPS had the presence of his Highness Real Doña Letizia Ortiz, Princess of Asturias; Doña Ana Ripoll, Rector of the Autonomous University of Barcelona; and Don Miquel Vilardell, President of the official College of physicians of Barcelona and Adviser of the Department of health of the Generalitat de Catalunya.