Update on National Bone Study in Gauchers Disease

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The National Bone Study, which is funded by the Gauchers Association, involves all four Centres dealing with Gauchers disease at the Royal Free Hospital, Royal Manchester Children's Hospital, Great Ormond Street Hospital and Addenbrooke's Hospital wirtes Prof Timothy Cox.

'Extensive clinical information related to the progression and features of Gauchers disease including its effects on mobility and quality of life is being collected from adults and children attending the National Centres.

'The project which is now in its third year has been principally conducted by Sister Jane Tindall, part-time clinical research nurse who has visited all four Centres. Ethics approval through the complex Clinical Research and Trials Directive of the European Union has been granted at all four Centres - a major achievement. Directors and participants at all Centres have been visited to co-ordinate the study. Information sheets are available to send to patients and recruitment has already started at two of the centres and is all set to occur at the other two now that Ethics permission has been provided for both children and adults with Gauchers disease.

'The project includes a questionnaire, a clinical examination and the harvesting of a small volume of stored blood and urine. The full enrolment of each patient takes one hour and so far a total of 84 patients have been recruited, 50 patients have been fully enrolled with a further 28 still to complete. At present most of the patients involved in the project are adults with Gauchers disease. As a result of delays in Ethical approval for children (which was granted in September 2005), we are hopeful that the enrolment and collection of the clinical data and samples will now proceed apace.

'In the second phase of the study the clinical data and its characteristics will be correlated with the markers of disease activity and other studies of blood coagulation and the activity of cells known to reside in bone marrow and bone tissue. This latter phase of the study will be completed by Dr Elena Pavlova in combination with the Centres.

Ultimately we are hopeful that determinants of Gauchers disease as it affects the bone will be identified which will lead to better institution of appropriate treatment to arrest progression since bone disease plays an important part in both children and adults with this condition'.

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Source: Gauchers News December 2005.
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