Emerging drugs for the treatment of epidermolysis bullosa

ABSTRACT

Introduction

Epidermolysis Bullosa (EB) form a heterogeneous group of rare, sometimes life-threatening inherited skin diseases characterized by skin and mucosal blistering after mild trauma from birth. They display a wide range of disease severity, with multiple local and systemic complications with no satisfactory treatment.

Areas covered

Approaches aiming to restore the functional expression of the defective protein such as ex vivo and in vivo gene therapy, cell therapies, protein replacement and pharmacological approaches have shown promising results. In addition, improved knowledge of EB pathogenesis has open the way to symptom-relief therapies using repurposed drugs in some forms of EB.

Expert opinion

A cure for all forms of EB will remain challenging, but it is anticipated that treatments for EB will rely on precision medicine, involving a combination of complementary approaches. Treatments aiming to restore the function of the defective genes will be combined with symptom-relief therapies to address the specific features of the different forms of EB and each patient complications. A growing number of biotech and pharmaceutical companies have shown an increasing interest in the treatment of EB and as a result, have implemented numerous clinical trials. Therefore, we anticipate the emergence of effective treatments in the near future.

KEYWORDS:

• Cell therapy
• drug repurposing
• epidermolysis Bullosa
• gene editing
• gene therapy
• protein replacement

Acknowledgments

Authors would like to thank Nadia Keelan for proof-reading of the manuscript.

Declaration of interest

A Hovnanian is a consultant for Phoenix Tissue Repair. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Additional information

Funding

This work was supported by State funding from the Agence Nationale de la Recherche under ‘Investissements d’avenir’ program (ANR-10-IAHU-01), Dystrophic Epidermolysis Bullosa Research Association (DEBRA) international and DEBRA France.