News

Krystal Biotech plans to file an investigational new drug (IND) application for its lead therapy candidate KB103 for the treatment of dystrophic epidermolysis bullosa, the company announced. The IND’s approval would allow a Phase 1/2 clinical trial to move forward to assess KB103’s safety, tolerability, and efficacy. The trial already…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

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…

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…