News

Debra of America (Dystrophic Epidermolysis Bullosa Research Association of America) and the Pachyonychia Congenita Project (PC Project) will soon meet with federal regulators to discuss patient-focused drug development in both rare skin diseases: epidermolysis bullosa (EB) and pachyonychia congenita (PC). PC is a rare genetic skin disorder caused by…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Researchers have developed a new technique that improves the efficiency of generating stem cells from patients with various diseases, including epidermolysis bullosa, with the goal of one day applying it in clinical use. Scientists already had developed methods by which cells from an adult donor can be “reprogrammed” to become stem…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

AC-203, also known as CCP-020, is advancing to a Phase 2 clinical trial as a potential treatment for patients with inherited epidermolysis bullosa (EB), TWi Biotechnology announced. The proof-of-concept trial, which was approved by the Taiwan Food and Drug Administration, is designed to provide data on the treatment’s…

Struggling to cope with the death of his 13-month-old son due to epidermolysis bullosa (EB), Robb Freed spent much of the last decade in a cloud of turmoil, mostly drifting through life and making a few poor choices. Robb Freed will ride across the country and…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…

Netherlands-based ProQR Therapeutics is supporting Rare Disease Day 2018 and will celebrate the legacy of rare disease pioneer Henri A. Termeer. ProQR develops RNA-based therapies for severe rare genetic diseases such as dystrophic epidermolysis bullosa (DEB), cystic fibrosis, and Leber’s congenital amaurosis 10 (LCA 10), which is the…

In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…

A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…

A bone-anchored hearing aid was implanted in a patient with epidermolysis bullosa (EB) who had mixed hearing loss, according to a case report. There was minimal damage to the surrounding skin, which is generally seen with conventional hearing aids in EB patients. The case report, “Successful…

Combining genetic and protein analyses is a successful strategy to identify unusual cases of epidermolysis bullosa (EB), a German study shows. The research, “The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis,” was published in the journal Acta Dermato-Venereologica. EB is a group of…