News

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 —…

Castle Creek Pharmaceuticals recently enrolled its first patient in a Phase 1 clinical trial evaluating the pharmacokinetics (how the drug is processed in the body) and safety of a new formulation of diacerein 1% ointment (CCP-020) in patients with epidermolysis bullosa (EB). The study (NCT03472287) is…

Two new potentially damaging mutations were identified in a family with epidermolysis bullosa pruriginosa (EBP), a rare type of epidermolysis bullosa characterized by severe itching of the skin, or pruritus, according to a case study. The mutations were found in the COL7A1 gene that gives rise to type VII…

Allogeneic fibroblast injections are an effective and safe treatment strategy for non-healing wounds in patients with recessive dystrophic epidermolysis bullosa (RDEB), new research from Russia shows. The study, “Allogeneic fibroblast cell therapy in the treatment of recessive dystrophic epidermolysis bullosa,” was published in the journal…

ProQR Therapeutics is partnering with the nonprofit organizations EB Research Partnership (EBRP) and EB Medical Research Foundation (EBMRF) to develop QR-313, a treatment candidate for dystrophic epidermolysis bullosa. Dystrophic epidermolysis bullosa (DEB), one of the major forms of EB, is caused by alterations in the COL7A1…

Menlo Therapeutics’ investigative therapy serlopitant seems to effectively reduce itch in patients with epidermolysis bullosa, according to results from a small exploratory Phase 2 trial. The trial results were presented by researchers from the dermatology department at Stanford University School of Medicine at the International Investigative Dermatology 2018…

Abeona Therapeutics announced the opening of the Elisa Linton Center for Rare Disease Therapies, a commercial manufacturing facility to support the development of its gene and cell therapy candidates targeting rare diseases like recessive dystrophic epidermolysis bullosa (RDEB). Based in Cleveland, Ohio, the GMP facility will be able to manufacture…

As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to BERG’s BPM 31510 (ubidecarenone), a treatment candidate for patients with epidermolysis bullosa (EB), the company announced. Medications granted orphan drug designation are intended to treat, diagnose or prevent rare conditions, defined as those affecting…

Should scientists have the right to edit the genes of future generations to eliminate hundreds, if not thousands, of potential rare diseases? Or should researchers restrict their use of genome editing to somatic cells, so that they don’t pass changes on to the next generation? What about stem-cell research, three-parent…

Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…

The U.S. Food and Drug Administration recently granted fast-track designation to Krystal Biotech’s KB103 for the treatment of dystrophic epidermolysis bullosa (DEB). DEB is caused by mutations in the COL7A1 gene, the gene that provides instructions to make type VII collagen (COL7). Collagen strengthens body tissues and is…