In 1999 there was no central source of information in the UK about the CGD population, the problems patients face or the success of different treatments. But the CGD Society helped to develop a comprehensive database – or registry – as a hub for such data. We have provided funding for one for the UK and another for Europe – and they helped to provide accurate information on the incidences of CGD in the general population and document the problems and lifestyles of patients and their families to help determine if there is any correlation between genetic variation and the pattern of illnesses seen in the disorder. The funding established the infrastructure for the collection of this important patient data going forward.
How the CGD Society has made a difference
“The funding role of the CGD Society was critical. It can be difficult to obtain funding for these sorts of registry projects and particularly for a ‘rare’ disease like CGD. Without funding from the CGD Society, this work would not have been performed. The key messages from the study are that there should be no complacency and there is still a lot of work to do in treating and caring for patients with CGD. We need to find new ways of treating and preventing inflammation. We hope that with the information we have gained we can make further advances in diagnosis, treatment and cure of patients with CGD and so continue to improve their lives.” Dr Andrew Gennery, CGD Registry team at Newcastle General Hospital.
The UK registry
Grant awarded to: Professors Goldblatt, Cant, Parker and Gennery, Institute of Child Health, London and the University of Newcastle.
Amount: £210,924 over three years ending in 2004
Official title: ‘Establishment of a national, centralised CGD database in the United Kingdom’
Outcomes and benefits: This 2000-2001 ‘snapshot’ study of CGD in the UK and Ireland enrolled 94 patients. The study showed that severe infectious complications are common in people affected by CGD with a high incidence of chronic respiratory disease. At the time of the study morbidity levels were significant especially for people aged 30 years and over. The research was the first to look at the epidemiology of CGD in the UK and helped improve our understanding of the prevalence of CGD and its clinical complications and provided an important benchmark to monitor future progress in diagnosis and treatment.
Publications resulting from this work:
Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A., Goldblatt D, Parker L, Cant AJ. Clin Exp Immunol. 2008 May: 152(2):211-8.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2384093/The European registry
Grant awarded to: Professors Weening, Roos and Kuijpers, Academic Medical Center Amsterdam, Netherlands.
Amount: £98,635 over one year ending in 2003
Official title: ‘Establishment of an European centralised CGD database’
Outcomes and benefits: Information on the prevalence, incidences and clinical problems affecting CGD patients in Europe was obtained by a clinician visiting eight European centres. Clinical data was gathered from 429 CGD patients living in 17 European countries. X-linked (XL) CGD (gp91phox deficient) accounted for 67% of the cases, autosomal recessive (AR) inheritance for 33%. AR-CGD was diagnosed later in life. CGD manifested itself most frequently in the lungs (66% of patients), skin (53%), lymph nodes (50%), gastrointestinal tract (48%) and liver (32%). The most frequently cultured micro-organisms per episode were Staphylococcus aureus (30%), Aspergillus spp. (26%), and Salmonella spp. (16%). Surprisingly, Pseudomonas spp. (2%) and Burkholderia cepacia (<1%) were found only sporadically. Lesions induced by inoculation with BCG occurred in 8% of the patients. These data provide further insight into the clinical course of CGD in Europe and helped to increase awareness and optimise the treatment of these patients.
Publications resulting from this work:
Chronic granulomatous disease: the European experience. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Espanol T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW. PLoS ONE. 2009;4(4):e5234.
http://www.plosone.org/article/info:doi/10.1371/journal.pone.0005234Hematologically important mutations: X-linked chronic granulomatous disease (third update). Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. Review.
http://www.ncbi.nlm.nih.gov/pubmed/20729109Hematologically important mutations: X-linked chronic granulomatous disease (third update). Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ. Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. Review.
http://www.ncbi.nlm.nih.gov/pubmed/20729109