The Irish Epidermolysis Bullosa (EB) Registry was established in 2020 as a subcommittee of NISR to identify, collect, record, store and analyse information relating to the prevalence and incidence of EB in Ireland.

EB is a rare genetic skin fragility condition, resulting in blistering and fragility of the skin and mucosal surfaces. The phenotypic spectrum is extremely variable between subtypes. Symptoms range from intermittent localised skin blistering to extensive wounds with associated pain and significant morbidity and mortality. Complications include pain, itch, skin contractures, malnutrition, infection and premature death due to cutaneous malignancy or sepsis.  EB has a major impact on the health and wellbeing of those living with the condition. Better information on the number of people living with EB, and their health status is needed.

The Irish EB Registry which was launched in 2020 will collect and analyse health information of Irish EB patients for years to come. This data will be collected at the patient visit to Our Lady’s Children’s Hospital Crumlin and St James Hospital, Dublin. The information will allow clinicians to examine how symptoms and treatments change over time and check whether EB treatments continue to work well and safely over many years. The information could be used to provide an EB information service to governmental agencies, the health service, hospitals and health care professionals, and help improve planning and delivery of care and services for people with EB. It will also provide an important source of information for future research.

The EB registry is an observational study of the EB patient population in Ireland. By collecting and analysing information on people with EB in Ireland, we can better understand their health and wellbeing, and the benefits of treatments provided. For people with EB agreeing to take part, the registry will collect information on their diagnosis, their health status at each hospital visit, heights, weights, blood test results, procedures, medicines and treatments, health complications, healthcare service use and information about how the condition and treatments impact patients’ quality of live. The EB registry is an encounter-based registry, meaning that information will be recorded from each interaction for EB care with the EB team as part of their usual standard of care. 

The EB Registry platform will be provided by software partners OpenApp. The OpenApp Registry™ is an open source platform for developing patient, disease and pharmaceutical drug registries, and its core technology has been deployed in multiple registries across Europe. The platform supports highly secure web based data collection, reporting, sharing and anonymization of datasets. The registry has the potential to be expanded and further developed to also operate as a clinical management system to support EB clinical care. The data model is patient-centred and its workflows are clinician-centred.

This information could be used to examine how symptoms and treatments change over time and check whether EB treatments continue to work  well and safely over many years. Information on EB could be provided to governmental agencies, health care providers and payers, and help improve planning and delivery of care and services for people with EB. It will also provide an important source of information for future research and advocacy.

How do I register?

If you do decide to take part, you can find out more in multiple ways:

This registry was developed and supported in part by DEBRA Ireland