Experts Assess Guidelines for Treating Gauchers Disease


Full Text of the Technology Assessment Conference
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Gauchers disease was the focus of a three day Technology Assessment Conference held at the National Institutes of Health in Washington DC, USA on 27 February to 1 March 1995. A panel of experts gathered to outline guidelines to improve the management of patient care and reduce the high cost of treatment. Its purpose was to evaluate current concepts concerning diagnosis, treatment and screening and genetic counselling. Doctors and scientists from around the world including the UK presented their findings.

'This meeting can be the start of a new co-operation among researchers, practitioners and most importantly patients, to further improve our ability to help families who are struggling with this devastating disease,' said panel chairman Dr Edward McCabe, Professor and Executive Chair of Paediatrics at the UCLA School of Medicine.

While the panel acknowledged the remarkable value of enzyme replacement therapy (Ceredase) for treating patients with Gauchers disease, the group's recommendations reflected the economic concerns about this expensive treatment. The panel also agreed that there was insufficient data to warrant screening at-risk populations at this time and urged the research and health care communities to share patient data in order to maximize knowledge about the diagnosis and treatment of the disorder.

Enzyme Replacement Therapy Is Very Effective
Prior to the US approval of Ceredase in 1991, Gauchers disease was traditionally managed by spleen removal, transfusions, hip replacements, and bone marrow transplants. Based on data presented at the conference, the panel concluded that enzyme replacement therapy is very effective but there is no evidence that patients benefit more from high doses than low doses of the enzyme. Enzyme replacement therapy had successfully reversed many of the manifestations of the disorder, including abnormal blood counts, increased liver and spleen size and some skeletal abnormalities.

'Because response to therapy is varied and unpredictable, each patient's progress must be monitored closely, but we know a sizable number of patients do well on lower dose regimens,' said Dr McCabe.

Independent Group of Investigators Encouraged
The panel noted that favourable responses to low dose therapy had led to considerable debate regarding dosage levels. The failure to standardise research studies and compare patient data in the scientific community presently limited consensus regarding optimal dosage. The panel encouraged NIH (National Institutes of Health) to assemble an independent group of investigators to conduct nationwide, co-operative clinical trials to determine the lowest effective enzyme dose and the effectiveness of treating individuals who exhibit few symptoms of the disease.

The group also noted that gene therapy offers hope for effective low cost treatment in the future.

Conclusions
The panel said that the success of enzyme replacement therapy for Gauchers disease was a credit to the investigators, the National Institutes of Health, the pharmaceutical manufacturer and the many patients and their families.

Evidence presented at the conference led to the following conclusions:

UK Representation
Prof Timothy Cox and Dr Pram Mistry presented their recent research, 'In Vivo Distribution of Mannose-Terminated Human Glucocerebrosidase in Patients with Gauchers Disease', to the panel. This research shows where Ceredase goes to in human patients eg the spleen, liver and bone marrow, and how long it stays there. The research was reported in Second Conference Report.


Source: Gauchers News September 1995

Full Text of the Technology Assessment Conference
A Personal View of the Technology Assessment Conference
Return to contents page