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Elin Davies-Pope the Clinical Trial Nurse at Great Ormond Street Hospital, reports on her work with the European Task Force for the Management of Neuronopathic Gauchers Disease.
'The European Task Force held a meeting earlier this year to review the management of Neuronopathic Gaucher Disease with representatives from Germany, Sweden, Poland and the UK present.
'The original EU Task Force guidelines for the management of neuronopathic Gaucher disease were published in 2001. It seemed timely therefore to review these findings in light of follow-up data, and in particular to look at the effect of enzyme replacement therapy on the progress of the neurological phenotype of Gaucher disease.
The meeting heard the experiences of each country, with a cohort of 60 patients discussed. 'A common theme that was identified during the meeting was the key problem of analysing patient data in a uniform way across the group. Recommendations were made for further analysis in particular a more uniform methodology for measuring the patient response to therapy.
In light of this, efforts have been made to develop a Severity Scoring Index (SSI) that will generate improved understanding of the neurology in a standardised format to monitor the clinical course of the disease and the response to treatment. Developing a standardised format for monitoring treatment without cultural or economical restraints will support international consistency and hopefully eventually lead to an improved management of the disease.
'Working in collaboration with Dr DeVile, Paediatric Neurologist at Great Ormond Street Hospital, we are now close to finalising the SSI. Following the generous support of the Gaucher Association I am also in a very privileged position to be embarking on visits to Sweden, Germany and Poland in the coming months to meet the patients discussed, and assess them using the SSI in collaboration with the clinicians in each respective country.
This data will be gathered in addition to all other information available which will offer us a rich knowledge base about this cohort of patients and hopefully contribute to an updated European consensus on the management of neuronopathic Gaucher disease.'
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Source: Gauchers News December 2005.
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