Work funded by the CGD Research Trust has given further insight into the clinical course of CGD of patients in Europe. The recently published study by a group from The Netherlands provides information on the largest cohort of CGD patients studied to date.
Dr van den Berg, who headed the study, explains 'CGD is a rare disorder and it is important to gather information together from large numbers of people to get an informed picture of how well we are picking up the condition, treating it and what problems and complications people with CGD suffer from. To get this bigger picture we collected retrospective data from specialised institutes that treat CGD patients from several countries within Europe. These included The Netherlands, Sweden, Germany, Poland, Spain, Belgium, France, Switzerland, Denmark and Israel. In the end we were able to collect data on 429 patients with the oldest clinical information dating from 1954 to the most recent in 2002.' The study did not include data from patients in the UK, Ireland and Italy because they have their own comprehensive registries.
The European experience found that the autosomal form of CGD is diagnosed much later then CGD. Importantly, the work showed there is still a significant minority of affected people who are not diagnosed until their teens and sometimes into their twenties or even later. 'This means we have to work harder to raise more awareness about the condition and its distinguishing features to physicians,' comments Dr van den Berg. 'We also observed that in general the autosomal form of CGD followed a milder course than the X-linked form and it is possible that because of this, this type of CGD can be more difficult to diagnose. Worryingly we found prophylactic medicine was not taken by a large number of the patients leaving them highly vulnerable to infection and encouraging and educating people to take their anti-fungal and anti-biotic treatments regularly is a major goal.'
The work highlights that CGD remains a clinical challenge. 'We believe that good support, consisting of regular wide ranging check-ups by a committed physician, taking prophylactic drugs and prompt and aggressive treatment of infections when suspected remains the cornerstone for the treatment of CGD,' said Professor Kuipers, who is the senior author on the paper and who treats patients with CGD at the Emma Children's Hospital in Amsterdam.
So where is the work heading? Over to Dr van den Berg again. 'We have new plans for taking this forward and we are currently developing a new on-line clinical registry for European patients run by the European Society for Immunodeficiency. Rather than looking back at records we will be collecting data continuously and going forward in time. We will also include data from more European countries. We hope this will, over time, produce an even fuller picture of CGD and help us inform and monitor what therapies are the most effective and help optimise treatments to improve the health and well-being of those affected.'
You can access the paper at www.plosone.org/article/info:doi/10.1371/journal.pone.0005234
IMPORTANT NOTE :
The information contained on this website is intended only as a guideline, not as a substitute for medical advice. Always consult your doctor if you or your child has any CGD symptoms or concerns.
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