Living with RDEB
Research type
Research Study
Full title
Living with Recessive Dystrophic Epidermolysis Bullosa (RDEB)
IRAS ID
165709
Contact name
Janelle Yorke
Contact email
Clinicaltrials.gov Identifier
15261, Sponsor Reference
Duration of Study in the UK
0 years, 4 months, 1 days
Research summary
Epidermolysis Bullosa (EB) is a rare genetic skin condition caused by a mutation of the COL7A1 gene that codes for Collagen VII found in skin and mucosa. Little research has been done on the experiences of EB patients to date.
There is currently no cure for EB. Treatments are limited to being palliative, aiming to minimize damage and complications. Although clinical trials are ongoing to assess treatment efficacy), the lack of evidence about the needs and experiences of adults living with RDEB has on occasions, posed problems when analysing quantitative trial data. Clinical endpoints can lack sensitivity to measure changes reported by patients qualitatively, or do not measure what trial participants say are important aspects to them. Quality of life questionnaires used are unvalidated or non-disease specific as, until very recently, none existed.
This qualitative study aims to explore the experiences of living day to day life with RDEB, from the perspective of those living with the condition, rather than as imposed meanings by the researcher. To our knowledge this will be the first attempt to explore the experiences of adults with RDEB.
The evidence of how adult individuals live with this rare life-threatening condition can inform clinicians and the general public about living with a complex inherited condition such as RDEB. In addition the evidence can be used to advise hospital clinicians, clinical trial clinicians and scientists of what is important to patients about their condition which can, in turn, define patient-centred therapeutic measures and endpoints, clinical trial therapeutic measures and endpoints and inform research priorities.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
15/WM/0234
Date of REC Opinion
8 Jul 2015
REC opinion
Further Information Favourable Opinion