Why is it so difficult to find a cure?
Challenges of EB research
EB is a group of conditions, and because the underlying genetic cause differs from one type of EB to another, with resulting differences in symptoms, severity and prognosis, a variety of treatment strategies are being developed.
EB, although thought of primarily as a skin-blistering disorder, is a systemic disease, with chronic inflammation and tissue malfunction throughout most organs, leading to failure to thrive and premature death. Ultimately, systemic therapies are required, though localised treatments to address non-healing wounds provide relief for patients living with EB now.
History of EB research
There is currently no cure for any form of EB, and treatment still focuses largely on wound care by protective bandaging to reduce pain and further damage, and managing complications from the risks of infection, fibrosis and poor nutritional status.
However, over the past decade, there has been a rapid transition of therapeutic concepts to early-stage clinical trials. Chronic skin wounds and their complications are the most obvious feature of most EB types, and most therapeutic approaches attempt to repair skin to heal wounds and strengthen it against further damage.
As EB tissue is inherently fragile, repair requires delivery of either:
- Cells carrying genetic material capable of producing adequate amounts of the defective or missing protein (ex-vivo gene-cell therapy), direct delivery of such genetic material for uptake by the body (in-vivo gene therapy),
- Direct delivery either intradermally or intravenously of the missing/defective protein (protein therapy),
- Drugs (small-molecule, RNA) to down-regulate production of mutated protein, or upregulate the production of compensatory proteins.