Butterfly Babies: The Youngest Victims of a Life-Threatening Skin Disorder

(DGIwire) – A newborn baby is a cause for joy. But for some parents, that joy is tempered by sadness—when the child is born with a rare disorder called epidermolysis bullosa (EB). As recently profiled in The Washington Post, the littlest victims of this disorder have bodies that are covered in blisters and wounds. Babies born with EB are often referred to as “butterfly children,” notes the Post, because their skin is as fragile as a butterfly’s wings. This rare genetic condition can cause skin to blister at the lightest touch. According to the Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA), one in 20,000 people—or 200 American babies a year—are born with EB, which results when cells are missing a protein that binds the skin together.

“There is currently no cure for EB, only stopgap treatments for managing symptoms—which means, for the most part, breaking blisters so they don’t expand to damage more skin and then wrapping the sores to prevent infection,” says John Maslowski, President and Chief Executive Officer at Fibrocell, a gene therapy company. “However, research, including ours, is ongoing to find new solutions.”

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.

Fibrocell 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. 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.

Fibrocell has initiated a Phase 1/2 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. Twelve patients are targeted for this Phase 1/2 trial, which consists of six adults in the Phase 1 portion of the trial and six patients in the Phase 2 portion of the trial.  Pediatric patients will be included in Phase 2, subject to FDA allowance.

In the first quarter of 2017, the first adult patient was treated in the Phase 1 portion of the trial. In second quarter of this year, the Data Safety Monitoring Board recommended continuation of the Phase 1/2 trial following a planned review of safety data from the first adult patient treated in the Phase 1 portion of the trial; subsequently, dosing was completed in the first cohort of adult patients in the Phase 1 portion of the Phase 1/2 trial. The cohort consists of three adult NC1+ patients. Twelve-week post-treatment data for safety, mechanism of action and efficacy for multiple patients in the Phase 1 portion of the clinical trial for FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB) are expected in the third quarter of 2017. 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 Rare Pediatric 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.

“Our goal is to develop a treatment that offers the potential to provide hope and relief to patients and their families who are living with this devastating genetic disease,” adds Mr. Maslowski.