PEBLES

  • Research type

    Research Study

  • Full title

    Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES): Natural history and clinical endpoints in epidermolysis bullosa

  • IRAS ID

    142032

  • Contact name

    Jemima Mellerio

  • Contact email

    j.mellerio@nhs.net

  • Research summary

    Epidermolysis bullosa (EB) is a general term used to describe a group of inherited skin disorders in which there is a tendency for the skin and mucous membranes to break down following minor injury. One of the most severe forms of EB is recessive dystrophic EB (RDEB), which can affect many systems in the body.
    In order to undertake clinical trials of new, emerging therapies in RDEB, it is necessary to have a clear understanding about the natural history and course of the disease so that any modification by a therapy can be reliably assessed.
    Our proposed study will examine and record data from a large series of RDEB patients (approximately 120) who are seen at the adult and paediatric EB centres in London. Data collected from patients will include: demographics, clinical examination findings, test results (e.g. blood tests, bone scans, echocardiograms), and data on any treatments or procedures they have had. All of this information would normally be collected as part of the patients’ regular clinical care. The data captured will give a picture of the clinical and laboratory status of patients at different ages from birth throughout life. Subsequently, for the 2 year duration of the project, individual patients will have the same information recorded (every 6 months in children up to 10 years, annually thereafter) to provide a longitudinal record of how the EB has progressed for that individual. This data will provide insight into the natural course of RDEB over time, and also identify which clinical features are meaningful as endpoints for clinical trials of new EB therapies.

  • REC name

    London - Bromley Research Ethics Committee

  • REC reference

    15/LO/0001

  • Date of REC Opinion

    24 Sep 2014

  • REC opinion

    Favourable Opinion