New Enzyme Treatments for Other Diseases


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atient associations for six different diseases were represented at two days of talks about the development of new enzyme replacement therapies and medical advances during a Congress for the Society for the Study of Inborn Errors of Metabolism held in Cambridge on 16-17 September. A special reception and dinner was hosted by Prof Timothy Cox and Mrs Joan Grantham on the Saturday evening.


Patient associations for six different diseases were represented at two days of talks about the development of new enzyme replacement therapies and medical advances during a Congress for the Society for the Study of Inborn Errors of Metabolism held in Cambridge on 16-17 September. A special reception and dinner was hosted by Prof Timothy Cox and Mrs Joan Grantham on the Saturday evening.

Ceredase, and then Cerezyme, to improve the symptoms of Gauchers disease, were the first two enzyme replacement therapies to be produced for treating an inherited lysosomal storage disorder. Because of the successful scientific and technological advances that led to their development and commercial success, similar treatments for other rare diseases are now being explored by scientists and the pharmaceutical industry.

Enzyme Replacement Treatments

Delegates at the Congress for the Society for the Study of Inborn Errors of Metabolism heard about the development of enzyme treatments for three other conditions and clinical trials are underway for Fabry's disease, Pompe's disease, and Mucopolysaccaridosis (MPS) type 1.

Trials are also planned for a further three disorders: MPS types II and VI and Niemann-Pick disease type B.

'While enzyme replacement therapy is expected to successfully remove already-stored material and prevent further storage in tissues and organs in direct contact with circulating peripheral blood, for example the heart, liver, spleen and joints, it is anticipated that storage in the central nervous system (brain) may not be reduced,' said Prof John Hopwood who heads the Lysosomal Diseases Research Unit at the Women's and Children's Hospital in Adelaide, Australia.

'The major problem that appears to restrict the usefulness of enzyme replacement therapy for brain disease is the presence of a protective membrane surrounding the brain called the blood-brain barrier,' he said. 'Further studies are required to investigate the effectiveness and limits of enzyme replacement therapy for those diseases where the brain is affected and, where necessary, to develop methods to achieve treatment of patients with brain disease.'

Other Treatments

Trials of the new substrate balance drug Vevesca (OGT 918) on Gauchers disease and Fabry's disease were also described as well as the drug's potential use for Late Onset Tay Sachs and Sandhoff's disease.

Dr Fran Platt said that she and her colleagues were already working on the next generation of substrate balance drugs in her laboratory in the University of Oxford.

Enzyme therapy and beyond was the theme of Dr Robert Desnick from the Department of Human Genetics, Mount Sinai Medical Centre in New York. He said that gene replacement therapy, human stem cell therapy and other drug developments may all have a part to play in the future of treating metabolic diseases.

Reception and Dinner

Prof Timothy Cox and Joan Grantham hosted a reception and dinner together with Jeremy Manuel and Susan Lewis on the preceding Saturday evening to encourage the networking of different disease associations who have similar aims and concerns. Representatives from Climb (previously known as the Research Trust for Metabolic Diseases in Children), Fabry's Disease, Glyco-gen Storage Diseases Association (which includes Pompe's disease), Society for Mucopolysaccaride Diseases, Niemann-Pick Disease Group, and Leucodystrophy attended the function held at Sidney Sussex College, University of Cambridge.

Dr Atul Mehta and Dr Fran Platt were amongst the guests which also included other eminent doctors and scientists with an interest in these diseases.

The evening gave guests a chance to meet and talk about the many encouraging developments in the whole field of metabolic medicines in general - and the lysosomal disorders in particular.

Prof Cox thanked everyone for attending and also the representatives of Genzyme, Oxford GlycoSciences and Transkaryotic Therapies who provided charitable donations to make this gathering possible.


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Source: Gauchers News March 2001.
© Copyright Gauchers Association 2001