The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2022-03-24

AUTHORS

Anna Tylki-Szymańska, Zsuzsanna Almássy, Violetta Christophidou-Anastasiadou, Daniela Avdjieva-Tzavella, Ingeborg Barisic, Rimante Cerkauskiene, Goran Cuturilo, Maja Djiordjevic, Zoran Gucev, Anna Hlavata, Beata Kieć-Wilk, Martin Magner, Ivan Pecin, Vasilica Plaiasu, Mira Samardzic, Dimitrios Zafeiriou, Ioannis Zaganas, Christina Lampe

ABSTRACT

BackgroundMucopolysaccharidoses (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.Results19 experts from 14 Southern and Eastern European countries in total responded to the survey. Results outlined a picture of MPS management in the region, with a high number of MPS patients managed in the centers and a high level of care. MPS II was the most prevalent followed by MPS IVA, with a particular high number of adult patients. The study particularly focused on management and treatment of MPS IVA patients. Adherence to current European Guidelines for follow-up of MPS IVA patients is generally adequate, although some important assessments are reported as difficult due to the lack of MPS skilled specialists. Availability of ERT in Southern and Eastern European countries is generally in line with other European regions, even though regulatory, organizational and reimbursement constrains are demanding.ConclusionsThe landscape of MPS in Southern and Eastern European countries is generally comparable to that of other European regions, regarding epidemiology, treatment accessibility and follow up difficulties. However, issues limiting ERT availability and reimbursement should be simplified, to start treatment as early as possible and make it available for more patients. Besides, educational programs dedicated to specialists should be implemented, particularly for pediatricians, clinical geneticists, surgeons, anesthesiologists and neurologists. More... »

PAGES

136

References to SciGraph publications

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  • Journal

    TITLE

    Orphanet Journal of Rare Diseases

    ISSUE

    1

    VOLUME

    17

    Author Affiliations

  • Department of Pediatric Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, Poland
  • Department of Toxicology and Metabolic Diseases, Heim Pal Children’s Hospital Budapest, Budapest, Hungary
  • Archbishop Makarios III Hospital, Nicosia, Cyprus
  • Department of Clinical Genetics, University Pediatric Hospital, Sofia, Bulgaria
  • Centre of Excellence for Reproductive and Regenerative Medicine, Children’s Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia
  • Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania
  • University Children’s Hospital, Belgrade, Serbia
  • Mother and Child Health Care Institute of Serbia, Medical University of Belgrade, Belgrade, Serbia
  • University Children’s Hospital, Skopje, North Macedonia
  • National Institute of Children’s Diseases, Department of Paediatrics, Medical Faculty Comenius University, Centre for Inherited Metabolic Disorders, Bratislava, Slovakia
  • Unit of Rare Metabolic Diseases, Department of Metabolic Diseases, Jagiellonian University Medical College, University Hospital, Krakow, Poland
  • Department of Pediatrics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic
  • University Hospital Centre Zagreb, Department of Internal Medicine, Division of Metabolic Diseases, Zagreb School of Medicine, Zagreb, Croatia
  • Regional Centre of Medical Genetics, INSMC Alessandrescu-Rusescu, Bucharest, Romania
  • Institute for Sick Children, Department of Pediatric Endocrinology and Metabolism, Medical School, University of Montenegro, Podgorica, Montenegro
  • First Department of Pediatrics, Hippokratio General Hospital, Aristotle University, Thessaloniki, Greece
  • Neurogenetics Laboratory, Neurology Department, University Hospital of Heraklion, University of Crete, Heraklion, Greece
  • Department of Child Neurology, Epileptology and Social Pediatrics, Centre for Rare Diseases, University of Giessen, Standort Giessen, Feulgenstr. 12, 35389, Giessen, Germany
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13023-022-02285-x

    DOI

    http://dx.doi.org/10.1186/s13023-022-02285-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1146509127

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/35331284


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