Overview of current EB therapies and treatment approaches
New scientific article from the EB House
Improved understanding of the underlying cause of EB and advances in molecular technologies, have tremendously increased the number of clinical studies in EB in recent years. Researchers of the EB House have summarized all ongoing clinical trials and therapeutic approaches for EB in a review article (Table 1 in the article).
Causal therapies under clinical investigation such as gene- protein- and cell therapies aim to correct the underlying genetic defect or substitute the missing or defective protein in the skin. This should ensure the adhesion of the two skin layers and thus avoid blister formation with all subsequent complications. However, these approaches also have their limitations and are not yet applicable routinely, due to lack of efficacy, tolerability, or safety.
Therefore, most therapeutic strategies currently under clinical investigation focus on alleviating severe EB-related symptoms, which includes wound care and improved healing, control of microbial infections, management of pain and itch, and prevention of complications like anemia, and skin cancer. Such symptom-relieving therapies often use orally or topically administered small molecule drugs (more information about small molecules). In addition, injections of different kinds of stem cells or cell-derived vesicles, known to have anti-inflammatory effects, are investigated as a disease-ameliorating treatment.
Since every EB patient has very individual EB-related symptoms based on the subtype and many other factors, it is essential to develop highly individualized treatment plans using a combination of available therapeutic strategies. This represents a great challenge for conducting successful clinical trials, which require a sufficient number of patients in order to deliver a meaningful result. Further challenges are low patient motivation to participate, logistical and regulatory hurdles, as well as an incomplete understanding of the complexity of the disorder and the exact mechanism of treatment interventions. The authors propose specific solutions to overcome these hurdles, comprising closer collaboration between all involved parties. A key strategy to increase the number of successful clinical trials is the involvement of patients and their caregivers in study design and decisions from the early beginning on. Another important point is to make use of all available information and collected data (e.g. in registries) concerning EB symptoms and their treatment. This ensures to enable all EB patients access to tailor-made therapies in order to improve their symptoms and thus their quality of life.
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