Disease State: Epidermolysis Bullosa

Background

Epidermolysis bullosa (EB) is a heterogeneous group of rare genetic skin disorders characterized by fragility of skin and mucous membranes with blistering and chronic wounding following minimal trauma. EB is subdivided into four main types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB. Patients with EB present a broad spectrum of clinical severity, which ranges from minor palmoplantar blistering to extra cutaneous involvement and early lethality. There is no cure for EB. Therefore, symptom alleviation and disease-modifying therapies are currently the cornerstone of therapy. 

Due to advances in understanding the pathomechanisms of EB, there is a significant increase in the development and evaluation of novel treatments in randomized clinical trials. However, the trials in EB face many challenges, including the rarity of the disease, the genotypic and phenotypic heterogeneity, individual needs of EB patients, the timely and adequate recruitment of eligible patients, and the knowledge gaps in understanding the natural disease course of EB.

The many challenges of conducting EB trials, in conjunction with the heterogeneity in measuring and reporting outcomes, make it difficult to combine and compare results across studies. These factors hinder performing adequate secondary analyses of the available research data, which are mandatory for well-informed clinical and regulatory decision-making.

To expedite clinical translation of novel treatments for patients with EB, there is an urgent need for harmonization of outcome selection in EB. This could be achieved by providing a core outcome set for EB (COSEB) that suggests the minimum that should be measured and reported in clinical trials.


Project Goal

The COSEB initiative aims to develop a COS for EB for the different major EB types, focusing on the “what” and “how” to measure in EB clinical trials and daily practice. This will involve harmonization of outcomes by defining core outcomes and core measures (i.e. outcome measurement instruments) in consensus processes with global engagement of stakeholders involved in EB research and management, including patients and their caregivers, medical experts, investigators, industry representatives and regulators.


Project Leads

Peter van den Akker, MD, PhD
Peter van den Akker, MD, PhD
Marieke Bolling, MD, PhD
Marieke Bolling, MD, PhD
Barbara Horváth, MD, PhD
Barbara Horváth, MD, PhD
Dimitra Kiritsi, MD, PhD
Dimitra Kiritsi, MD, PhD
Eva Korte, MD
Eva Korte, MD
Martin Laimer, MD, PhD
Martin Laimer, MD, PhD
Marjon Pasmooij, PhD
Marjon Pasmooij, PhD
Verena Wally, PhD
Verena Wally, PhD
Tobias Welponer, MD
Tobias Welponer, MD


C3 Methods Partner

Jan Kottner
Jan Kottner

 

Contact

Marieke Bolling, MD, PhD: m.c.bolling@umcg.nl

Eva Korte, MD: e.w.h.korte@umcg.nl

 

Publications

Pending

 

 

Updated on January 12, 2023