Title The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers /
Authors Tylki-Szymańska, Anna ; Almássy, Zsuzsanna ; Christophidou-Anastasiadou, Violetta ; Avdjieva-Tzavella, Daniela ; Barisic, Ingeborg ; Čerkauskienė, Rimantė ; Cuturilo, Goran ; Djiordjevic, Maja ; Gucev, Zoran ; Hlavata, Anna ; Kieć-Wilk, Beata ; Magner, Martin ; Pecin, Ivan ; Plaiasu, Vasilica ; Samardzic, Mira ; Zafeiriou, Dimitrios ; Zaganas, Ioannis ; Lampe, Christina
DOI 10.1186/s13023-022-02285-x
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Is Part of Orphanet journal of rare diseases.. London : BioMed Central Ltd.. 2022, vol. 17, no. 1, art. no. 136, p. 1-16.. eISSN 1750-1172
Keywords [eng] Mucopolysaccharidoses ; Morquio A syndrome ; Southern and Eastern European countries ; enzyme replacement therapy ; treatment accessibility
Abstract [eng] Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade glycosaminoglycans. Impaired lysosomal degradation causes cell dysfunction leading to progressive multiorgan involvement, disabling consequences and poor life expectancy. Enzyme replacement therapy (ERT) is now available for most MPS types, offering beneficial effects on disease progression and improving quality of life of patients. The landscape of MPS in Europe is not completely described and studies on availability of treatment show that ERT is not adequately implemented, particularly in Southern and Eastern Europe. In this study we performed a survey analysis in main specialist centers in Southern and Eastern European countries, to outline the picture of disease management in the region and understand ERT implementation. Since the considerable number of MPS IVA patients in the region, particularly adults, the study mainly focused on MPS IVA management and treatment.
Published London : BioMed Central Ltd
Type Journal article
Language English
Publication date 2022
CC license CC license description