Title: Chronic Granulomatous Disease: Clinical course, quality of life, cognitive outcome and cost benefit with conservative or curative treatment.
Funder: Department of Health (England)

Abstract: Background Chronic granulomatous disease (CGD) is a rare serious primary immunodeficiency which can be managed with lifelong prophylactic antimicrobial medication and treatment of complications, or by potentially curative haematopoietic stem cell transplant (HSCT) or gene therapy. Pilot data suggests HSCT improves clinical outcome and quality of life, but detailed data are lacking. There is currently no consensus on which is better. In recent years it has been recognised that some immunodeficiencies and also HSCT have a significant impact on quality of life, cognitive function and mental health, but there has been little assessment of this in patients with CGD. Treatment with HSCT or gene therapy is expensive but this has not been compared to the cost of life long conservative treatment of CGD. Aims The United Kingdom and Ireland CGD registry was compiled in 2000 providing detailed information for CGD patients regarding hospitalisations, investigation, medications, treatment including HSCT and gene therapy and life expectancy.This study aims to update the information provided by the original registry and expand on it. This will include assessment of clinical course and outcome, quality of life, psychological wellbeing and cost of treatment of CGD. Comparisons will be made between those receiving conservative versus curative treatment (HSCT or gene therapy). Plan of Investigation Following REC approval consultants previously identified on the CGD registry as looking after pateints with CGD will be approached. They will asked to provide information to potential participants. Once consent is obtained data will be gathered from the medical records of these patients. Clinical features, treatments and complications will be documented, including whether they have undergone HSCT or gene therapy and their subsequent course. Quality of life, cognitive function and mental health will be assessed using standardised questionnaires and the results compared with age-matched standards. The cost of treatment will be determined from the data extracted from notes and use of the EQ-5D questionnaire to calculate cost per Quality Adjusted Life Year (QALY). Potential Impact This project will provide unique information on the psychological effects of CGD and potential differences between those treated conservatively or curatively. It will also provide up to date information on clinical outcome in the two groups. Information gained from this project can be used in the future when counselling families about the most appropriate management of their child when diagnosed with CGD. Although CGD is rare this study will also contribute to further understanding of the psychological impact of HSCT and immunodeficiency that will be valuable for other patient groups undergoing such treatment. Understanding the long term costs and impact on the NHS will aid in planning service provision.


Research activity codes: 7.1 INDIVIDUAL CARE NEEDS;8.1 ORGANISATION AND DELIVERY OF SERVICES
Health categories: INFLAMMATORY AND IMMUNE SYSTEM