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A European Consortium for Lysosomal Disorders

Objective

The EUCLYD consortium aims at developing a scientific network among outstanding communities of basic and clinical investigators in five European countries (Italy, Netherlands, UK, Sweden and Germany) to study various aspects of lysosomal storage diseases (LSD). LSDs are rare disorders (overall prevalence of 1/5000 to 1/8000), each due to a specific lysosomal enzyme deficiency, leading to intracellular storage of a variety of undegraded substrates (sphingolipids, glycosaminoglycans, glycoproteins and glycogen) in different tissues. Among the 40 to 50 LSDs presently known, EUCLYD will focus on Gaucher disease, Pompe disease, MPS VI and Multiple sulfatase deficiency, as prototypes of disorders with different stored materials in various organs and tissues outside the CNS. The issues to be investigated in the proposed project are: pathophysiology and mechanisms underlying the symptoms and leading to devastating clinical consequences; natural history; testing of novel therapeutic approaches. These issues will be addressed by patients studies and with mouse models recapitulating the phenotype of LSDs. Recent advances in the pathophysiology of LSDs point to the role of secondary processes triggered by substrate storage. A better understanding of these processes is crucial to identify new targets of therapy. Enzyme replacement and substrate reduction therapies were successfully introduced in the treatment of specific LSDs. However, pilot clinical trials should be supported by post-marketing studies to further assess the efficacy of these therapies and to develop standardized treatment protocols. To this purpose a precise knowledge of the natural history of LSDs is essential. Novel therapeutic strategies, such as enzyme enhancement and gene therapy are still under investigation in cell systems and in animal models. EUCLYD will provide further testing of these approaches in order to translate state of the art knowledge into clinical applications and reach patient's bedside.

Field of science

  • /medical and health sciences/basic medicine/physiology/pathophysiology
  • /medical and health sciences/medical biotechnology/genetic engineering/gene therapy
  • /humanities/history and archaeology/history
  • /natural sciences/biological sciences/biochemistry/biomolecules/proteins/enzymes

Call for proposal

FP7-HEALTH-2007-A
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

UNIVERSITA DEGLI STUDI DI NAPOLI FEDERICO II
Address
Corso Umberto I, 40
80138 Napoli
Italy
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 627 000
Administrative Contact
Gaetana Errico (Ms.)

Participants (5)

FONDAZIONE TELETHON
Italy
EU contribution
€ 994 710
Address
Via Varese 16/B
00185 Roma
Activity type
Research Organisations
Administrative Contact
Irene Mearelli (Ms.)
ERASMUS UNIVERSITAIR MEDISCH CENTRUM ROTTERDAM
Netherlands
EU contribution
€ 533 500
Address
Dr Molewaterplein 40
3015 GD Rotterdam
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Maria Aj Van Zeijl (Ms.)
THE CHANCELLOR MASTERS AND SCHOLARSOF THE UNIVERSITY OF CAMBRIDGE
United Kingdom
EU contribution
€ 403 500
Address
Trinity Lane The Old Schools
CB2 1TN Cambridge
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Dawn Barker (Ms.)
MAX IV Laboratory, Lund University
Sweden
EU contribution
€ 249 600
Address
Paradisgatan 5C
22100 Lund
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Jens Forsberg (Mr.)
UNIVERSITAETSMEDIZIN DER JOHANNES GUTENBERG-UNIVERSITAET MAINZ
Germany
EU contribution
€ 150 000
Address
Langenbeckstrasse 1
55131 Mainz
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Sibel Koctürk (Ms.)