News

Editor’s note: First of a two-part series on epidermolysis bullosa. The second part, focusing on treatments and care, will follow soon. For caregivers, epidermolysis bullosa (EB) is complicated, time-consuming, and fraught with risk, something Jennifer Thompson, who has a 5-month-old with EB, learns anew each day. “I…

The U.S. Food and Drug Administration (FDA) recently granted orphan drug status to ProQR Therapeutics‘ investigational drug QR-313, developed for the treatment of dystrophic epidermolysis bullosa (DEB). A first-in-class ribonucleic acid (RNA)-based oligonucleotide, QR-313 was designed to address the underlying cause of DEB due to mutations in…

InMed Pharmaceuticals has filed a provisional patent application covering its proprietary cannabinoid manufacturing system based on E. coli bacteria. This is the first of a series of patent applications the company plans to pursue covering different aspects of its biosynthesis system. InMed is currently exploring the therapeutic potential of two cannabinoid-based…

Amicus Therapeutics’ Phase 3 trial of SD-101 cream to treat wounds in patients with epidermolysis bullosa did not meet the company’s primary and secondary treatment goals, Amicus announced. The 169-patient study, in which SD-101 was compared to a placebo, did not detect any difference in the time it took…

Researchers have successfully applied the CRISPR/Cas9 system in a mouse model of recessive dystrophic epidermolysis bullosa (RDEB) to restore collagen VII protein function, a new study shows. RDEB is caused by mutations in the Col7a1 gene, which leads to either a lack of collagen VII or dysfunctional collagen VII protein. The…

Low bone mineral density, a measure of bone health, was associated with low vitamin D levels and more severe disease in children with epidermolysis bullosa (EB), an Italian study found. The authors recommended more studies to investigate the possible benefits of vitamin D supplements to improve bone health in affected…

A new study from Australia and New Zealand provides delivery guidelines for pregnant women with epidermolysis bullosa (EB) or women whose unborn babies have EB. The guidelines suggest that a normal vaginal delivery (NVD) is considered safe for most of these women. The study titled, “Retrospective evidence on outcomes and…

EB-101, a gene therapy developed by Abeona Therapeutics, has been granted Breakthrough Therapy designation by the U.S. Food and Drug Administration (FDA) for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). This designation is granted to investigative therapies that the FDA believes may show a substantial improvement over existing…

Short-term application of the antibiotic gentamicin, either topical or intradermal, reversed the effect of nonsense mutations in a small group of patients with recessive dystrophic epidermolysis bullosa (RDEB) and led to the production of functional type VII collagen protein and anchoring fibrils. RDEB is a severe form of epidermolysis bullosa,…

In a recent update on its drug development program, Fibrocell Science addressed the therapy, FCX-007, it is developing for people with recessive dystrophic epidermolysis bullosa (RDEB). Results from the Phase 1 part of a clinical trial testing FCX-007 will be available soon, according to the company. FCX-007 is a cell…

Amicus Therapeutics, a company developing therapeutics for rare diseases, recently released an update of the company’s clinical trial testing SD-101 as a potential therapy for patients with epidermolysis bullosa. The company’s investigational drug SD-101 is a skin cream designed for the treatment of skin blistering and lesions, and it…

Many adults and children with epidermolysis bullosa simplex (EBS-l) experience pain that can significantly impact their quality of life, but they lack access to adequate pain-management options, a questionnaire-based study found. The study, “Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex,” was published in…