Experiences and Practices of Treatment for Alkaptonuria
Research type
Research Study
Full title
Experiences and Practices of Treatment for Alkaptonuria in UK healthcare: A Sociological Study
IRAS ID
247980
Contact name
Darin Weinberg
Contact email
Sponsor organisation
School of Clinical Medicine, University of Cambridge
Duration of Study in the UK
1 years, 3 months, 1 days
Research summary
Alkaptonuria (also known as Black Bone Disease or Black Urine Disease, and sometimes abbreviated to AKU) is an inherited metabolic disease causing severe and early onset osteoarthritis among other debilitating symptoms. It is an ultra-rare condition, estimated to affect between 1 in 250,000 and 1 in 1,000,000 people. Continuing progress within metabolic medicine and therapeutic advances develops new and improved ways of treating alkaptonuria. Recent developments in the UK in particular have made it more likely that patients with the condition will be offered specialised healthcare based on the latest medical evidence as well as the option to take part in ongoing clinical trials. Although these are significant developments, knowledge about the experiences and practices of treatment for alkaptonuria in UK healthcare remains limited to case reports and anecdotal accounts. At this key juncture, a better understanding of this is needed to inform future progress in clinical practice and service provision. This study aims to advance this evidence base. Conducted over 15 months this sociological study will use qualitative methods including interviews, participant observation and document analysis with 60 participants (patients, carers, healthcare and non-governmental organisation (NGO) staff). The study is expected to help us to identify new approaches to treatment, or ways in which existing approaches could be improved and/or changed. This will provide an important resource that could benefit future service users and providers. In addition, the research aims to uncover results which could be beneficial for the treatment of other medical conditions in UK healthcare, by exploring the extent to which findings can be defined as specific to alkaptonuria, distinct to rare diseases, and shared with more common diseases. The study is sponsored by the University of Cambridge, and is funded by the Economic and Social Research Council (ESRC) and the Royal Liverpool and Broadgreen University Hospitals NHS Trust.
REC name
London - Brent Research Ethics Committee
REC reference
19/LO/0477
Date of REC Opinion
17 May 2019
REC opinion
Further Information Favourable Opinion