Gene Therapy May Offer Potential Relief for Rare, Painful, Blistering Skin Disease


By Staff Reports

(DGIwire) — The term “butterfly children” sounds pleasant, but it refers to a harsh reality: children born with epidermolysis bullosa, or EB, an inherited, genetic blistering skin disorder that makes their skin as fragile as a butterfly’s wings. EB affects all races, ethnicities and both genders, and has no cure. According to the Dystrophic Epidermolysis Bullosa Research Association of America, every year about 200 children are born with EB in the U.S.

There are several types of EB. The most common subtype of severe EB is recessive dystrophic epidermolysis bullosa, or RDEB—a progressive, devastatingly painful and debilitating disease that affects up to ~2,500 patients in the U.S. and often leads to death. RDEB causes severe blistering and areas of missing skin in response to any kind of friction, including normal rubbing and scratching.

Researchers know RDEB is caused by a mutation of the COL7A1 gene that results in the absence or deficiency of a critical protein, type VII collagen (COL7). This protein forms the connectors—known as anchoring fibrils—that hold together the layers of skin. Without these fibrils, skin layers separate causing severe blistering, tears and open painful wounds that may heal slowly or not at all and are vulnerable to infection. Current treatments, including daily bandaging, antibiotics, feeding tubes and surgeries, address only the symptoms.

Now Fibrocell, a gene therapy company, is leveraging its proprietary autologous fibroblast technology with genetic engineering to develop FCX-007, the Company’s gene therapy candidate for the treatment of RDEB.

“Fibrocell’s approach to treating RDEB is distinctive,” says Alfred Lane, MD, Professor of Dermatology and Pediatrics (Emeritus) at Stanford University School of Medicine, and Chief Medical Advisor at Fibrocell. “By genetically modifying a patient’s own fibroblasts to produce high levels of the COL7 protein, FCX-007 targets the underlying cause of RDEB and offers the potential to bring relief to patients suffering from the chronic painful blisters and open wounds of the disease.”

The process begins by collecting small skin biopsies from the patient that contain dermal fibroblast cells, the most common cells in skin and connective tissue. The fibroblasts are cultured and genetically modified ex vivo to produce functional COL7 that is missing or deficient, and then injected locally into the papillary dermis of the patient’s blisters and wounds where the COL7 protein could enable formation of anchoring fibrils to hold the layers of skin together. This localized therapeutic approach is compatible with the unique biology of each individual patient.

Fibrocell has initiated a Phase I/II clinical trial of FCX-007 for the treatment of RDEB. The primary objective of this open-label clinical trial is to evaluate the safety of FCX-007 in RDEB patients. Six adult patients are targeted for the Phase I portion of the trial, with the first patient dosed in February 2017. Additional patients are expected to be dosed with FCX-007 after a required four-week waiting period and subsequent health assessment of the first patient.

The U.S. Food and Drug Administration has granted Orphan Drug Designation to FCX-007 for the treatment of Dystrophic Epidermolysis Bullosa, which includes RDEB; likewise, the Agency granted both Pediatric Rare Disease and Fast Track Designations to FCX-007 for the treatment of RDEB. Fibrocell is developing FCX-007 in collaboration with Intrexon Corporation, a leader in synthetic biology.

“Ultimately, our hope is to begin treating the severe blisters and wounds of RDEB children at an early age which, potentially, could make a transformative difference in their lives,” adds Dr. Lane.

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