News

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…

FCX-007, an experimental gene therapy developed by Fibrocell Science in collaboration with Precigen (a subsidiary of Intrexon), continues to improve wound healing in recessive dystrophic epidermolysis bullosa (RDEB) patients, new results of a Phase 1/2 trial show. RDEB is caused by mutations in a gene that…

Results from a Phase 1/2 trial in recessive dystrophic epidermolysis bullosa (RDEB) showed that gene therapy candidate EB-101 led to durable wound healing and improved quality of life, according to Abeona Therapeutics. The updated findings on Abeona’s investigational skin graft cell therapy were recently presented at the…

The U.S. Food and Drug Administration granted rare pediatric disease designation to Castle Creek Pharmaceuticals’ diacerein 1% ointment (CCP-020) for the treatment of epidermolysis bullosa (EB). This designation is given to an investigative therapy that shows potential to offer a significant improvement in the treatment of…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…