On Rare Disease Day, a Focus on a Painful Skin Disease

(DGIwire) – To shed a spotlight on the more than 6,000 rare diseases, Rare Disease Day is marked worldwide on the last day of February each year—an event designed to raise awareness among the general public and decision-makers about these diseases and their impact on the lives of patients and their families.

Starting in 2008 when it was recognized in 18 countries, Rare Disease Day has since grown significantly in popularity, being commemorated in 94 countries in 2017. Hundreds of patient organizations all over the world work on a local and national level to raise awareness for the rare disease community in their countries.

“Encouraging stakeholders at all levels to take a closer look at the unique challenges of those living with rare diseases is a crucial way to foster progress toward improved treatment,” says John Maslowski, President and Chief Executive Officer of Fibrocell, a gene therapy company. “Calling attention to what these individuals are experiencing may spur public support for new research programs that could ultimately result in better care.”

One of the rare diseases to which greater attention deserves to be paid is recessive dystrophic epidermolysis bullosa (RDEB), a progressive, devastatingly painful and debilitating skin disease that affects up to ~2,500 patients in the U.S. and often leads to death. 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.

In its pursuit to advance the state of care for those with RDEB, Fibrocell is focused on developing its novel gene therapy candidate, FCX-007—a genetically modified fibroblast that encodes the gene for COL7 for localized treatment of RDEB. Fibroblasts are the most common cell in skin and connective tissue, and are responsible for synthesizing extracellular matrix proteins, including collagen that provides structure and support. They are also the foundation of the proprietary autologous fibroblast technology that Fibrocell is using to develop personalized biologics for diseases of the skin and connective tissue. Fibrocell’s distinctive autologous approach to personalized biologics—extracting fibroblast cells from a patient’s own skin—enables development of localized gene therapies that are compatible with the unique biology of each patient and have the potential to address the underlying cause of disease.

Fibrocell is leveraging its proprietary autologous fibroblast technology with genetic engineering to develop FCX-007 for the treatment of RDEB. FCX-007 offers the potential to address the underlying cause of RDEB by providing high levels of COL7 directly to the affected areas, thereby avoiding systemic treatment. FCX-007, part of Fibrocell’s gene therapy portfolio, is being developed in collaboration with Intrexon Corporation, a leader in synthetic biology.

“We are looking forward to the day when those whose lives have been touched by this rare disease, both directly and indirectly, can enjoy an improved quality of life,” adds Mr. Maslowski.