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A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Using a simple blood sample may be sufficient to detect a biomarker for skin cancer in epidermolysis bullosa patients, a new study suggests. This is because the cancer-specific variant of the SLCO1B3 gene is found exclusively in extracellular vesicles detected in blood circulation. The study reporting the findings is titled “Extracellular Vesicles as…

Scientists have found that using inhibitors on specific parts of the so-called complement system, part of the immune system that aids the functioning of antibodies, led to improvements in blister formation in a mouse model of epidermolysis bullosa acquisita (EBA). The findings support the therapeutic potential in EBA of…

Patients with epidermolysis bullosa acquisita sometimes can develop acute renal failure, according to a case report. The report, “Acute renal failure in a patient with epidermolysis bullosa acquisita,” was published in the journal Anais Brasileiros de Dermatologia. Epidermolysis bullosa acquisita (EBA) is a severe autoimmune skin…

A protein called SYK is a major regulator of the inflammatory response carried out by myeloid cells in mouse models of epidermolysis bullosa acquisita (EBA), showing potential for a new therapeutic target, researchers discovered. Findings were published in the study, “Whole-Genome Expression Profiling in Skin Reveals…

Krystal Biotech has submitted an investigational new drug application with the U.S. Food and Drug Administration (FDA) to start a Phase 1/2 clinical trial of its lead gene therapy candidate KB103 for the treatment of dystrophic epidermolysis bullosa (DEB). FDA approval of the application would enable the company to…

Injecting fibroblasts directly into a wound led to higher rates of healing and complete closure than other more common methods in patients with recessive dystrophic epidermolysis bullosa (RDEB), a severe form of epidermolysis bullosa, researchers found. Findings were reported in the study, “Cultured allogeneic fibroblast injection versus…

Amryt Pharma’s lead investigative therapy AP101, developed to reduce the time it takes for skin wounds to close, is recruiting patients with epidermolysis bullosa for a pivotal Phase 3 trial. AP101, also known as oleogel-S10, is a topical product based on refined birch bark extract comprising 72%…

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…