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State-of-the-art statistical design and analysis for maximal success with minimal patient burden in Epidermolysis bullosa trials

Project lead Dr Johann Bauer & Dr Martin Laimer
Organisation EB House Austria, Salzburg, AUSTRIA
Partner organizations & collaborators Intelligent Data Analytics Lab (Team Biostatistics and Big Medical Data PMU Salzburg, Georg Zimmermann); I-BioStat, University Hasselt and KU Leuven (Geert Molenberghs); Department of Pharmaceutical Biosciences, Uppsala University (Mats Karlsson)
Project budget EUR 220,000.00 EB House part EUR 40,000.00
Start date / Duration 01. Jan 2021 / 24 months
Funder(s) / Co-Funder(s) Others
Other funder(s) European Joint Programme on Rare Diseases (EJP RD)

Research area Biostatatistics

Project details

Short lay summary

The controlled testing of an innovative therapeutic approach within the framework of a clinical trial is made difficult in the case of rare diseases by the small number of suitable patients and thus often complex trial protocols. The project now being supported aims to use statistical and other methodological approaches to make the collection and utilisation of data more efficient in view of the limited resources available. This should increase the significance of the results and facilitate the planning of such studies in the future, but also keep the burden of participation for patients as low as possible. Among other things, the results are to be made available to the public in a freely accessible software (app). 


Scientific summary

Epidermolysis bullosa simplex (EBS) is a rare genetic, blistering skin disease for which there is no cure. Treatments that address the pathophysiology of EBS are needed. In a randomized, placebo-controlled, 2-period crossover phase 2/3 trial, we assessed the immunomodulatory impact of 1% diacerein cream vs. placebo in reducing the number of blisters in EBS. 15 patients were randomized to either placebo or diacerein for a 4-week treatment and a 3-month follow-up in period 1. After a washout, patients were crossed over during period 2. Of the patients receiving diacerein, 86% in episode 1 and 37.5% in episode 2 met the primary end point, i.e. a reduction of number of blisters by more than 40% from baseline in selected areas over the treatment episode (vs 14% and 17% with placebo, respectively). No adverse effects were observed.

An international consortium of statisticians with different, overlapping and complementing, areas of expertise, will (A) reanalyze the data using different state-of-the-art methodologies, trying to exploit the longitudinal nature of the data as much as possible, (B) investigate the impact that certain characteristics of the trial have on the statistical analysis, (C) develop strategies and design recommendations for future trials in this area, but also transferable to other rare diseases, and (D), as means to ensure transferability and high dissemination of the results, devise computational tools that can be used by practitioners in order to implement (A) - (C) in concrete trial planning and analysis, and provide educational material.


EB House Austria
Big Data
European Joint Programme on Rare Diseases
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