Generoso Andria – DPFII – Federico II University, Naples, Italy

generosoandriaInstitute description
The Department of Pediatrics, Federico II University, Naples is an institution with both clinical and research resources. The clinical facilities of the Department can accept up to 130 patients/day and include different services, such as pediatric specialties clinics, a neonatal intensive care unit and a pediatric surgery unit. The outpatient clinic can accept up to 60 children/day. Specific fields of interest of the Department are genetic and metabolic diseases, pediatric gastroenterology, immunology, infectious diseases. The Department of Pediatrics is a referral centre for the treatment of patients with inborn errors of metabolism (IEM) and is active in the diagnosis, follow-up and treatment of approximately 250 patients with IEM, including patients with lysosomal storage disorders. Trials for the evaluation of the efficacy of novel approaches to the treatment of lysosomal storage diseases (including enzyme replacement therapy and substrate reduction) have been performed in recent years or are in progress. DPFII will serve as scientific coordinator.

Group leader
Generoso Andria, MD, is Full Professor of Pediatrics and Chief of the Department of Clinical Pediatrics at the Federico II University of Naples. Prof. Andria has long-standing experience (more than 30 yrs) in the diagnosis, follow-up and care of patients with inborn errors of metabolism, including LSDs, and has organized several meeting and workshops on this topic. Research directed by Prof. Andria was recently involved in the use of innovative approaches to the treatment of LSDs such as clinical trials for Gaucher (Genzyme), MPS II (TKT-Shire), NPC (AIFA, Italian Medicines Agency, Ministry of Health) and in the characterization of small molecules for enzyme enhancement therapy in Pompe disease (WP3).

Role in the project
Coordinator for the grant, Workpackage Leader for WP3 and WP6, and Chair of the Coordinating Team. His laboratory is also involved in WP1, WP2 and WP5.

Key personnel

Name Title Gender Role/Expertise
Generoso Andria Group Leader M Coordinator, WPL for WP3 and WP6
Giancarlo Parenti Investigator M Follow-up and treatment of metabolic diseases, pathophysiology of LSDs (WP1, WP2, WP3, WP5)
Roberto Della Casa Clinician M Evaluation of innovative therapeutic approaches to LSDs (WP1)
Maria Rosaria Tuzzi Technician F Cell culturing, enzyme assays, DNA amplification and sequencing, protein over-expression, and biochemical analysis in mammalian cell systems (WP2, WP3)
to be appointed Clinician Expert in metabolic diseases and in the evaluation of disease clinical markers (WP1)
to be appointed Technician Experience in cell culturing, enzyme assays, protein over-expression and biochemical analysis in mammalian cell systems, drugs pharmacokinetics (WP2, WP3)

Key publications

Parenti G, Zuppaldi A, Pittis MG, Tuzzi MR, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G (2007). Pharmacological enhancement of mutated a-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther 15: 508-514.

Andria G, Parenti G (2006). Oligosaccharidoses and related disorders In: Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases (Editors: Blau N, Hoffmann GF, Leonard J, Clarke JTR). Springer, Berlin: pp. 215-226.

Cox TM, Aerts JM, Andria G, Beck M, Belmatoug et al. (2003). Advisory Council to the European Working Group on Gaucher Disease. The role of the iminosugar Nbutyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 26: 513-526.

D’Azzo A, Andria G, Strisciuglio P, Galjaard H (2001). Galactosialidosis In: The Metabolic and Molecular Bases of Inherited Disease (Editors: Scriver CR, Beaudet AL, Sly WS, Valle D). McGraw-Hill, New York, 8th edition.

Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995). A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy Cell 81: 15-25.