The Politics of Gaucher Disease in Europe

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Prof Timothy Cox of the Department of Medicine, University of Cambridge at Addenbrooke's Hospital spoke at the EWGGD Conference on the Politics of Gaucher disease in Europe.

Prof Cox gave the definition of politics as 'the art of the possible', a phrase coined by German, Spanish, French and British philosophers and politicians, the first being Bismarck.

He described the immense contribution of laboratory research made in Europe from the earliest descriptions of Gaucher disease in France and subsequently in children in England.

Scientists and doctors in the Netherlands had also made a major contribution, latterly with the generation of monoclonal antibodies directed against the enzyme glucocerebrosidase that proved to be essential for the early commercial manufacture of Ceredase from human placentae; this was provided free by the medical scientists involved.

'Europe and in particular Spain, our host country for this meeting, have been melting pots of humanity as evidenced by the simultaneous discovery of the unique genetic mutation D409H by scientists led by Prof Amparo Chabás and colleagues in Barcelona and within the Palestinian community by Israeli medical scientists including Dr Zimran and Dr Abrahamov.

The presence of two copies of this mutation has caused a unique type of Gaucher disease with prominent cardiovascular features. In fact similar features also occur in Japan but the occurrence of D409H in Arabic and Turkish populations reflect importantly on the multi-ethnic nature of modern Europe, the history of Spain and the pan-ethnic nature of Gaucher disease itself.'

Enzyme Replacement Therapy

Prof Cox's wide-ranging lecture included reference to enzyme replace-ment therapy for Gaucher disease within Europe. He also commented on the European Cerezyme Access Programme funded by Genzyme with a mission to treat patients seriously affected by Gaucher disease and with the specific commitment to the well-being of patients in Eastern European and Balkan countries where re-imbursement mechanisms are currently inadequate to meet the demand for treatment. He said that so far the work had been a great success in delivering treatment to patients with urgent unmet medical needs and he paid tribute to Dr Carlo Incerti and his colleagues at Genzyme who had facilitated an appropriate medical infrastructure for delivering treatments and ensured appropriate monitoring and care of patients.

Orphan Drug Act

In conclusion, Prof Cox referred to the emergence of the Orphan Drug legislation in Europe. 'The aim of the European Parliament was to provide incentives for orphan medicinal products. The Orphan Drug Act has indeed introduced an element of competition with the licensing of the small molecule inhibitor (Zavesca) as a second-line treatment for Gaucher disease and, in relation to Fabry disease, two licensed enzyme preparations. There has also been an explosion of interest based on the success of Gaucher disease treatment in the development of enzyme therapy for other lysosomal disorders.

'Unfortunately at present despite the apparently seamless legislative organisation of Europe, there is a lack of co-ordinated mechanisms to ensure equity of access for these specialised treatments. Clearly much work is needed on behalf of patients and their carers to ensure that governments demonstrate a joined-up policy to support pharmaceutical investment in rare diseases with specialised licensing arrangements and reimbur-sement practices of all countries. This includes those within the core of Europe and those in the expanding new frontiers. In essence these are all societal questions to be posed to politicians but addressed by society.

New Europe

'The new Europe is thus still an active forum for resolving humane aspirations of society and relieving human suffering through healthcare provision. Gaucher disease remains at the core of these discussions. It has proved to be a spectacular example of competitive success and a triumph of utility and progress within biotechnology and healthcare.

'In the recent review of orphan drug legislation by the European Commission it had been stated explicitly that society cannot accept that certain individuals be denied the benefits of medical progress simply because the affliction from which they suffer affects only a small number of people. But ultimately only patients, who suffer from these conditions and participate directly in clinical research and trials of new drugs, can convince politicians of the importance of this public health issue.'

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Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.