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Participant 6

Johannes-Gutenberg-University Mainz

Partner 6: University Mainz, Germany (MAIN),Children`s Hospital University of Mainz, 55101 MAINZ, Germany Team leader/Responsible Scientist: Ass. prof. Prof. Beck, Key skills: Clinical judgement, Medical insight, Contact for Clinicians, patients and patient organisations.

Background: Prof. Michael Beck is the head of the center for lysosomal storage disorders at the Children`s Hospital of the University of Mainz. We take care for more than 400 patients with lysosomal storage disorders. We have experience in enzyme replacement therapy in LSDs since more than ten years. Scientific work includes clinical studies in Leukodystrophies, Mucopolysaccharidoses, Gaucher disease, Fabry disease and Mannosidosis. Almost 200 Gaucher patients, more than 100 Fabry patients and 5 MPS I are treated in our clinic. I was/I am principal investigator in clinical trials for the development of enzyme replacement therapy for patients with Mucopolysaccharidosis I, II and VI. The department is engaged in a postgraduate course for lysosomal storage disorders that takes place every year in Nierstein (Mainz). The 8th International MPS Symposium was organized by the center for lysosomal storage disorders. A laboratory for the diagnosis of almost all lysosomal storage disorders is available in the department.

Capacity to contribute to the project: The center for lysosomal storage disorders in Mainz participated at natural history studies for Mucopolysaccharidosis type II and VI. The clinic has all qualifications to perform clinical tests (lung function, echocardiography, electrocardiogram, measurement of range of joint motion etc.). In addition to physicians who are trained in clinical trials, experienced study nurses are part of the staff. The center for lysosomal storage disorders is located in a new facility that is solely destinated to clinical studies.

Members involved: 18 personell months (18 pm) are needed: (Study nurse who will coordinate the project (6 pm), Orthopedics, Lung function, Heart investigation (12 pm)). Consumeables: Travelling of the patients, hotel costs for the patients/parents. Other contributing members of the laboratory: Prof. Dr. M. Beck, head of the group (2 pm) and Dr. Eugen Mengel, MD, sub-investigator, and Dr. Eugen Mengelresponsible for physical examination (2 pm), Bianca Link, MD (orthopedics, 4 pm), Wolfgang Kamin, MD (pulmologist, 4 pm), Chr. Kampmann, MD (Cardiologist, 4 pm).

TOTAL EXPECTED EFFORT: 34 pm

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