About Dystrophic EB

About Dystrophic EB

Dystrophic epidermolysis bullosa, or DEB, is an incurable, often fatal skin blistering condition caused by a lack of collagen protein in the skin. It is caused by mutations in the COL7A1 gene encoding type VII collagen, or COL7, a major component of anchoring fibrils which connect the epidermis to the underlying dermis and provide structural adhesion between these skin layers in a normal individual. The lack of COL7 in DEB patients causes blisters to occur in the dermis as a result of its separation from the epidermis. This makes the skin incredibly fragile, leading to blistering or skin loss at the slightest friction or perturbation. DEB is both progressive and incredibly painful.

The most severe form of DEB is recessive DEB, or RDEB, which is caused by homozygous null mutations in the COL7A1 gene. DEB also occurs in a dominant form, DDEB, which is considered to be a milder form of the disease. There are no known treatments affecting the outcome of either form of the disease, and the current standard of care for DEB patients is limited to palliative treatments. We are currently developing KB103 for the treatment of DEB, including both recessive and dominant forms of the disease, and our phase I/II trial of KB103 in DEB patients is ongoing.

For more information on dystrophic epidermolysis bullosa, visit:
Dystrophic Epidermolysis Research Association of America: http://www.debra.org/
Epidermolysis Bullosa Medical Research Foundation: https://ebmrf.org/
Epidermolysis Bullosa Research Partnership: https://www.ebresearch.org/