News

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

New mutations in KRT5, the gene coding for keratin 5, one of the major structural components of the skin epidermis, account for previously unsolved cases of basal epidermolysis bullosa simplex (EBS), a study has found. Mutations in the genes KRT5 and KRT14, which code for keratins 5 and 14, are…

Abeona Therapeutics, a biopharmaceutical developing new gene therapies for rare diseases, announced the opening of the first anticipated commercial gene therapy manufacturing facility in Cleveland, Ohio. The facility is named The Elisa Linton Center for Rare Disease Therapies and will have the capacity to produce advanced gene and cell…

Diacerein, which is a commercially available medicine used to treat osteoarthritis, also may hold therapeutic potential to treat blistering in patients with epidermolysis bullosa simplex type Dowling-Meara (EBS-DM). Initially discovered by a team of researchers at the EB House Austria, University Clinic for Dermatology at the Paracelsus Medical…

Fibrocell Science recently reported positive interim results from its Phase 1/2 clinical trial testing FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). FCX-007 is a gene therapy product candidate, developed in collaboration with Intrexon Corporation, for the treatment of RDEB, a congenital and progressive orphan skin disease…

Editor’s note: This is the second in a two-part series on epidermolysis bullosa. The first part, about the complications caregivers experience with the disease, can be found here. Despite the recent clinical-trial failure of SD-101, a once-promising skin cream, efforts are building to better understand epidermolysis bullosa (EB) and…

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…