According to a story from pm360online.com, the drug development company ProQR Therapeutics N.V. will be partnering with EB Research Partnership (EBRP) and EB Medical Research Foundation (EBMRF) in order to continue the development of the investigational drug QR-313. ProQR specializes in developing new therapies to treat rare, severe genetic diseases. QR-313 is in development for the treatment of dystrophic epidermolysis bullosa. Under the terms of the new relationship, EBRP and EBMRF have agreed to provide around five million in matching funds to the company to aid in the development of the drug.
Dystrophic epidermolysis bullosa (DEB) is an inherited disease that primarily affects the skin, but can cause impact other organs as well. Children born with the disorder are often called “butterfly children” as their skin is delicate like the wings of a butterfly. It is caused by a deficiency in the fibrils that are responsible for the connecting the epidermis and dermis layers of skin. Patients with dystrophic epidermolysis bullosa have skin that is vulnerable to blistering, and wounds heal very slowly or not at all, making them vulnerable to infection. The disease also damages the lining of the esophagus, making a feeding tube necessary. Patients also experience chronic inflammation, fatigue, and iron deficiency. This inflammation can cause the development of squamous cell carcinoma. Most patients die due to the development of this cancer or other complications by age thirty. To learn more about dystrophic epidermolysis bullosa, click here.
QR-313 is in development for DEB that is specifically caused by genetic mutations on the COL7A1 gene. The influx of extra funding will allow for accelerated development of the drug. There are currently no treatments available that can successfully treat patients with DEB and prolong their lives. QR-313 utilizes a mechanism called exon-skipping, which has been developed for treating other genetic diseases as well. If the drug shows good results, the company could develop other medicines that address other mutations associated with the disease as well.
