Gauchers News Contents
Through the tremendous efforts of members, friends and families, the target amount of £162,000 has been raised for the Research Study into Gauchers Disease at the four UK Gaucher Centres. The Gauchers Association would like to thank everyone who has made this possible. Dr Patrick Deegan gives an update on the project.
The aim of the study is to document as fully as possible the extent of bone involvement in as many as possible UK Gaucher disease patients. This involves a clinical history and physical examination of the patients with emphasis on mobility, quality of life and pain. The patients' clinical experience will then be compared with findings on X-Ray, MRI and bone mineral density investigations. 'This information will be used to develop severity scoring systems for bone disease and, it is hoped, find factors which predict later bone disease. Such factors might include the age at which a patient first develops symptoms and whether the patient had a splenectomy.
An important component of the project is to search for and then evaluate chemical markers of bone disease that might be of use in prediction and in monitoring severity of bone disease and response to particular treatments.
At a more practical level, we were delighted to be able to employ Jane Tindall as Research Nurse for the project, based at Addenbrooke's Hospital but visiting all centres.
A considerable amount of time went into writing ethical applications for the various hospital sites involved in the study and in preparing patients information sheets. A computer database was constructed to store the information we wished to gather.
So far we have been able to recruit approximately 80 patients to the study including six children from Great Ormond Street Hospital. We hope to add more children by September.
'Recruitment has been achieved mainly through speaking to patients in clinic and going through the ethical consent process with them. They are interviewed for the bone study on the day of their normal clinic visit and a careful physical examination of patients' joints is carried out.
The information received from the patients is then entered on to the computer database. Blood and urine samples are taken from the participants and stored. All the patients' previous X-Rays and MRI studies and, indeed, bone mineral density assessments are reviewed as part of the bone project. This particular aspect is already showing great promise in describing in an objective way some of the specific bone abnormalities in Gaucher disease and, we expect, documenting important effects of enzyme replacement therapy on the skeleton.
By September 2006, Jane Tindall will have completed the task of gathering all of the information and all new acquisition of data will cease. At that point we will move on to the analytical phase of the project. We are happy that we have been able - with the great assistance of the Gauchers Association - to recruit Dr Elena Pavlovafrom the Russian Republic of Yakutia to carry out much of the laboratory based analysis of the blood and urine samples.
Dr Pavlova is a paediatrician with a longstanding interest in the bone complications of severely-affected Russian children with Gaucher disease that she looked after. She will examine a number of potentially interesting chemical markers of Gaucher disease with a view to finding ways to predict future bone disease and monitor response of existing bone disease to treatment.
This final phase of the project will take one year and at the end of this period we expect to submit the results for publication in medical journals, but also present our findings to the Gauchers Association. We are extremely grateful to the Gauchers Association and to its individual members who devoted a great deal of time and energy in fund raising this project. We hope to be able to repay their generosity with valuable clinical research information into this important and disabling complication of Gaucher disease.
Earlier article on this
Gauchers News Contents
Source: Gauchers News June 2006.
© Copyright Gauchers Association 2006