Partners

Participant 6

Johannes Gutenberg University Mainz

Partner 6:
Universitätsmedizin, Children’s Hospital, Mainz, Germany

Key skills:
Clinical experience in treatment of patients with lysosomal storage disorders. Medical insight, contact for clinicians, patients and patient organisations.

Laboratory (Clinical) Background:
Prof. Michael Beck is the head of the center for lysosomal storage disorders at the Children`s Hospital of the University of Mainz. This center takes care for more than 600 patients with lysosomal storage disorders. Prof. M. Beck and his team has had experience in Enzyme Replacement Therapy in LSDs for more than ten years. Scientific work includes clinical studies in Leukodystrophies, Mucopolysaccharidoses, Gaucher disease, Fabry disease and alpha-Mannosidosis. Almost 200 Gaucher patients, more than 100 Fabry patients and 60 MPS patients (MPS I, II and VI) are treated in the clinic. Prof. M. Beck was/is principal investigator in clinical trials for the development of Enzyme Replacement Therapy for patients with Mucopolysaccharidosis I, II and VI and Fabry disease. In the HUE-MAN natural study 25 patients affected by a Mannosidosis have been included in this center. A laboratory for the biochemical 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 in  natural history studies for Mucopolysaccharidosis type II and VI and alpha-Mannosidosis (HUE-MAN trial). The clinic has all the 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 facility that is solely destinated to clinical studies.

Personnel involved:

• Prof. Dr. M. Beck, (Professor, M), Head of the group who has a long-standing interest and experince in LSD treatment including ERT. He has been involved in the Natural History Study of alpha-Mannosidosis patients performed during the HUE-MAN
• Yasmina Amroui, (MD, F), sub-investigator responsible for the implementation of the clinical trial phase III
• Study nurse who will coordinate the project
• NurseBiotechnician
• Other members of the departement inlcude Orthopedics, Lung function, Heart investigation
  

Key Publications:

1. Beck M. (2009). Alglucosidase alfa: Long term use in the treatment of patients with Pompe disease. Ther Clin Risk Manag,  5, 767-772.
2. Beck M. (2009). Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opinion on Biological Therapy,  9, 255-261.
3. Schlander M., and Beck M. (2009). Expensive drugs for rare disorders: to treat or not to treat? The case of enzyme replacement therapy for mucopolysaccharidosis VI. Curr Med Res Opin,  25, 1285-1293.
4. Beck M. (2008). Orphan Drug Clinical Trials - The Global Impact. The Monitor,  22, 39-42.
5. Beck M. (2007). New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet, 121, 1-22.

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