News

With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Creditand affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate, or…

Fibrocell Science has completed a type C meeting with the U.S. Food and Drug Administration in which they discussed the design of a Phase 3 clinical trial to assess the efficacy of FCX-007, a gene therapy candidate for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). During the…

The first participant has been enrolled in a Phase 2 clinical trial testing AC-203 for the treatment of inherited epidermolysis bullosa (EB), the trial’s sponsor, TWi Biotechnology, announced. AC-203 (also known as CCP-020) is a proprietary topical formulation of 1% diacerein, a compound able to inhibit factors that contribute to…

A technique used to decipher the DNA sequence, called next-generation sequencing (NGS), was successfully used to identify two new mutations in a patient diagnosed with both simplex and junctional epidermolysis bullosa (EB). The findings were reported in the study “Next generation sequencing identifies double homozygous mutations in two…

The first two adults with recessive dystrophic epidermolysis bullosa (RDEB) treated with the topical gene therapy candidate KB103 experienced increased levels of functional human collagen 7 (COL7) protein and anchoring collagen fibril formation, a Phase 1/2 clinical trial shows. Moreover, wounds treated with topical KB103 closed in two weeks and…

Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

A new gene-editing approach can repair a mutation responsible for recessive dystrophic epidermolysis bullosa (RDEB) in a patient’s tissue. A full description of the technique is in the study “Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair,” recently published in the…

A low dose of calcipotriol, which is already approved for the treatment of psoriasis, may improve healing and prevent wound infections in patients with recessive dystrophic epidermolysis bullosa (RDEB), a study showed. Treatment with calcipotriol ointment helped close a chronic…

Fibrocell received $1.4 million from the U.S. Food and Drug Administration’s Office of Orphan Products Development (OOPD) to support the company’s ongoing clinical trials testing its FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). In collaboration with Precigen (a wholly owned subsidiary of…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

Despite broken bones and all manner of inclement weather, Robb Freed is seven months and 7,000 miles into his super-human quest to bike across the United States and back to raise awareness of epidermolysis bullosa (EB). His 13-month-old son died from the disease 10 years ago. Freed’s on the…

A family of enzymes with genome-editing function to enhance immune system responses are driving the high rate of skin cancer in patients with recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study also reports that the type of mutations present in RDEB skin tumors are closer to…