For those sponsors and research sites in the central European nation of Austria that seek to reach patients with Epidermolysis Bullosa (EB): these patients want to participate in clinical trials. However, they are leery of doing so because of A) travel distances to trial sites, and B) the risk of side effects associated with investigational drugs.
These findings were derived from a recent study, “Profiling trial burden and patients’ attitudes to improve clinical research in epidermolysis bullosa,” recently published in the Orphanet Journal of Rare Diseases.
What is Epidermolysis Bullosa (EB)?
EB represents a group of rare genetic conditions resulting in the common blistering of the skin and mucous membranes. Only a minor trauma can create major, painful blistering. Disease severity ranges from mild to fatal. Patients with mild cases often don’t develop symptoms until they begin to crawl or walk. Complications associated with this rare disease include esophageal narrowing, squamous cell skin cancer, and the need for amputations.
The disease is caused by a mutation in at least one of 18 various genes. Some types are autosomal dominant, while others are classified as autosomal recessive. The underlying mechanisms are a defect in attachment between or within the layers of the skin. Four main types are classified, including 1) epidermolysis bullosa simplex, 2) dystrophic epidermolysis bullosa, 3) junctional epidermolysis bullosa, and 4) Kindler syndrome.
There is no cure for this disease, and management involves everything from wound care and pain control to the control of infections, nutritional support, and prevention and treatment of complications. According to some sources, about 500,000 people are affected globally.
For more insight into research, follow the link to Epidermolysis Bullosa News, which includes a section on research initiatives.
In the Austrian study, Paracelsus Medical University researchers out of Salzburg collaborated with specialty care center EB House Austria to distribute a questionnaire to EB patients and caregivers in an effort to better understand attitudes toward clinical trials.
Although two-thirds of the respondents sought to increase their knowledge about clinical trials in general, as well as learn more about local clinical trials, they responded that distance was a key concern along with fear of adverse reactions. Follow the link from Epidermolysis Bullosa News to learn more.