Natural History and Clinical Endpoints Study in Epidermolysis Bullosa
Ongoing| Project lead | Prof Jemima Mellerio |
| Organisation | King’s College London, London, UK |
| Partner organizations & collaborators | St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, St Thomas’ Hospital and Great Ormond Street Hospital, London |
| Project budget | GBP 412,884.00 + GBP 238,033.50 |
| Start date / Duration | 01. Jan 2013 / 132 months |
| Funder(s) / Co-Funder(s) | DEBRA UK, DEBRA Austria |
| Research area | EB genetics, epigenetics & biology |
Publications related to the projects
Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register studyProject details
Short lay summary
PEBLES will provide more detailed information about RDEB than previously collected. It will help build a comprehensive picture of all aspects of well-characterised RDEB patients that will also extend to other centres and in time, for other types of EB. Ultimately, this project will help identify meaningful endpoints that will inform future clinical trials that are needed for all types of EB.
- This project is also known as PEBLES which is an acronym for Prospective Epidermolysis Bullosa Longitudinal Evaluation Study.
- It’s important because clinical trials of new treatments for RDEB need endpoints – so we need to know about the natural history of the disease in order to know what to measure.
- So far 55 patients have consented to participate – 44 adults and 11 children.
- Each participant (or participant’s parent) receives a booklet of questionnaires to complete before review by a researcher as well as a camera to collect a standard set of photographs.
- Examples of data collected consist of basic background data, laboratory, clinical information such as, blister count, age appropriate measures of items such as quality of life (collected from questionnaires), levels of pain and types and number of dressings used.
- This provides a comprehensive picture of all aspects of RDEB patients from birth into childhood and beyond, information that has never been collected before or in such detail.
- It will be extended to other EB centres.
- It may also extend to collecting information on other types of EB.
Recruitment to PEBLES started in November 2014. To date this project has recruited 55 patients with different types of recessive dystrophic EB (RDEB) into the study, and gathered prospective data in the majority of these individuals (every 6 months for up to 10 years old, and annually thereafter).
Strategic relevance
This study was initially funded in 2013 to help identify and define relevant endpoints which could be “measurable” target outcomes for clinical trials. A systematic review was initially carried out of all the current research in order to determine what knowledge there is about the natural history of RDEB. This highlighted that there was a necessity for a prospective longitudinal study that included assessment of laboratory, clinical, quality of life and socioeconomic information to understand the disease progression to a greater extent.
The second phase of this project was to then develop an electronic based questionnaire to capture many aspects of data from EB Patients, families and carers that has never been collected before.