Edition of 27 June 2007

A European Task Force on Brain and Neurodegenerative Lysosomal Storage Diseases

Considering the relatively rare nature of lysosomal storage diseases (LSDs), a project aimed at restorative therapy for these disorders proves an ideal candidate for a European-wide research effort. Indeed, in each individual country, the medical and scientific resources available and devoted to the research and treatment of these diseases is by necessity limited and existing clinical centres typically each care for just a small number of patients. Thus, pooling skills, expertise, manpower and patients to form a critical mass of researchers and laboratories is essential for progress to go forward. This is the rationale that led to the creation of European Task Force Brains for Brain (B4B).

The B4B consortium was established following the ninth International Symposium on Mucopolysaccharide and Related Disorders, held in Venice, Italy in June 2006, where for the first time a specific blood-brain barrier workshop in the context of lysosomal storage diseases was held. This workshop sharply emphasised the importance of contact between basic scientists and clinicians in order to progress toward a better understanding of the pathogenesis and the optimisation of cures and treatments for LSDs.

The B4B task force takes advantage of the expertise of leading European scientists in basic and applied neurotechnology and neurology, working together to create a powerful coordinated effort toward the comprehension of the pathophysiology processes of neurological disorders in LSDs, the implementation of knowledge of the blood-brain barrier, and the development of new molecular and/or biochemical strategies to overcome this barrier, and the exploitation of brain plasticity and regeneration in order to treat these CNS diseases.

B4B held its first workshop in Madrid in March of this year. Sponsored by four pharmaceutical companies, (Actelion, Biomarin, Genzyme and Shire-Human Genetic Therapies) the workshop addressed the current problems of treating lysosomal storage diseases, and was attended by some forty European scientists and clinicians, either experts in lysosomal storage disorders or the blood-brain barrier. Countries represented included France, Germany, Greece, Italy, Spain, the Netherlands, the United Kingdom and Israel. Also attending were a number of experts in lysosomal storage diseases from North and South America serving as advisors, and representatives of global pharmaceutical companies currently manufacturing therapies and dedicated to the treatment of these diseases.

The unanimous resolution from this meeting was the decision to apply for EU Seventh Framework Programme (FP7) funding to enable a coordinated collaborative European research effort to proceed. The collaboration of European experts in lysosomal storage diseases and the blood-brain barrier offers a unique opportunity to combine expertise to expand research. It was universally acknowledged that the only way to achieve success in this area is to form this consortium with the support of the relevant pharmaceutical companies operating within the FP7. A number of family and patient organisations dedicated to lysosomal storage disorders in Member Countries throughout Europe are currently organising European-wide support for this new consortium. For more information, contact founding members Maurizio Scarpa or David Begley.