A Phase 1/2 clinical trial assessing investigational QR-313 as a treatment for dystrophic epidermolysis bullosa (DEB) has begun and is now enrolling participants, ProQR Therapeutics recently announced.
The randomized, double-blind, placebo-controlled WINGS trial is recruiting up to eight participants with recessive DEB — a more severe form of the disease — who are 6 years of age or older. It will be conducted at locations in the U.S. and Europe.
DEB, one of the major types of epidermolysis bullosa, is caused by changes in the COL7A1 gene in exon 73. Exons are the portions of DNA containing the information to make proteins. Mutations in COL7A1 lead to defects in a protein called type VII collagen (C7), which is crucial for the proper bonding of two skin layers, the epidermis and the dermis.
QR-313 is an RNA-based investigational treatment designed to produce normal C7 protein and restore a normal link between the two skin layers. With this approach, ProQR aims to provide a way to improve skin healing and skin integrity in DEB patients.
The treatment candidate uses a process called exon skipping. According to ProQR, skipping exon 73 is expected to generate a shortened but functional C7 protein.
WINGS’ primary goals are to assess the safety and tolerability of topically applied, gel-based QR-313 and its proof of mechanism. Investigators will also quantify blood levels of QR-313 evaluate its effects on wound healing and skin strength, while also exploring the presence of C7 protein and anchoring fibrils — which connect the dermis and epidermis — in the skin.
Patients will receive either QR-313 or a placebo on two separate wounds roughly every other day for up to four weeks, followed by an eight-week observation period. Up to four small skin biopsies will be performed and analyzed.
According to the company, results of an early analysis may lead to adjustments in the frequency and/or method of skin delivery. The scientists will compare the rate, strength, and stability of wounds treated with QR-313 versus those receiving placebo.
“The initiation of our first human clinical trial for QR-313 is an exciting next step in the development of this novel investigational therapy for DEB. WINGS is designed to initially provide molecular proof of mechanism and subsequently clinical proof of concept for QR-313,” David M. Rodman, MD, executive vice president of research and development at ProQR, said in a press release.
According to Rodman, ProQR expects to “dose the first set of adult and pediatric patients over the next few months.” Preliminary results are planned by late 2018 and full data in 2019.
ProQR recently announced that the development of QR-313 will be done in partnership with nonprofit organizations EB Research Partnership and EB Medical Research Foundation, which will provide up to $5 million in matching funding.