News

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),…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

A rare case of autoimmune-driven epidermolysis bullosa (EB) was described in a patient who also had an undiagnosed mild genetic subtype of the disease. The case study, “Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations…

Krystal Biotech recently dosed the first patient in a Phase 1/2 clinical trial testing KB103, a topical gene therapy candidate for the treatment of dystrophic epidermolysis bullosa (DEB). DEB is a progressive and painful form of epidermolysis bullosa characterized by blistering of the skin. The blistering happens…

Collagen type VII-filled vesicles released by bone marrow-derived mesenchymal stem cells may explain the therapeutic benefits of these cells in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. The study, “Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive…