John Maslowski is President and Chief Executive Officer (CEO) of Fibrocell Science, a biotech company that is developing cell and gene therapies for a variety of rare, mostly skin-related, conditions. At the BIO International Convention held in Philadelphia, PA, we talked to Maslowski about recessive dystrophic epidermolysis bullosa (RDEB) and Fibrocell’s drug in clinical development to treat this rare disease.
“RDRB is an absolutely terrible, painful disease. What happens is, there’s a single protein mutation in patients that cause their layers of skin to detach. If I can use an analogy to describe this, think of it like Velcro. Velcro has these hoops at the top and then there’s like a lattice at the bottom, and they stick together. It’s not unlike skin. We have these structures called anchoring fibrils and their hoops that come down from the epidermal layer and bind it to the collagen fibers of the dermal layer and they keep our layers together and healthy. Type VII collagen is what makes up these anchoring fibrils.”
Children with RDEB lack an efficient amount of type VII collagen to keep those layers anchored and the net result is that the skin can move around more readily and that creates friction and what leads to blistering.
“These children ,and adults as well, have wounds all over their body a lot of the wounds are non-healing. They’re very painful and where really is problematic is when it leads to squamous cell carcinoma which is the number one mortality reason for these children,” noted Maslowski.
Currently, there is no approved treatment for people with RDEB and treatment is limited to wound management (home care bandaging, sepsis baths, amputations, etc) and pain relieve.
Fibrocell Science is hoping their gene therapy will dramatically improve the outcomes for these children. Since RDEB is due to a mutation in the COL7A1 gene, the company is developing a gene therapy called FCX-007, using the person’s own dermal fibroblast cell, to provide healthy COL7A1 genes into the skin.
In 2018, the company announced data from their phase 1 clinical trial showing good safety profile as well as positive trends with regard to wound-healing. Based on those results, and additional investment funding, Fibrocell has begun its phase 2 clinical trial and has already begun planning for a phase 3 study.
If all goes as planned, the company hopes to finish their trials in 2020 and submit their results to the Food and Drug Administration (FDA) in 2021.
For more information, visit fibrocell.com.