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The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…

A rare case of autoimmune-driven epidermolysis bullosa (EB) was described in a patient who also had an undiagnosed mild genetic subtype of the disease. The case study, “Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations…

Krystal Biotech recently dosed the first patient in a Phase 1/2 clinical trial testing KB103, a topical gene therapy candidate for the treatment of dystrophic epidermolysis bullosa (DEB). DEB is a progressive and painful form of epidermolysis bullosa characterized by blistering of the skin. The blistering happens…

Collagen type VII-filled vesicles released by bone marrow-derived mesenchymal stem cells may explain the therapeutic benefits of these cells in recessive dystrophic epidermolysis bullosa (RDEB), a study suggests. The study, “Dual mechanism of type VII collagen transfer by bone marrow mesenchymal stem cell extracellular vesicles to recessive…

Epidermolysis bullosa (EB) can affect the gastrointestinal tract, leading to the development of esophageal stenosis, or a narrowing of the esophagus, according to a new case report. The report, “A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa – case report…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

The U.S. Food and Drug Administration has cleared Krystal Biotech‘s investigational new drug application for KB103, a topical gene therapy for dystrophic epidermolysis bullosa (DEB). The company can now start enrolling patients for a clinical trial to test the experimental therapy. KB103 is based on the company’s…

It’s not every day a Southeast Asian monarchy bestows a $100,000 prize on a U.S. government research agency. In fact, it rarely happens. But this year is different. Thailand’s Prince Mahidol Award Foundation has chosen the National Human Genome Research Institute — a division of the National Institutes of Health (NIH)…

Krystal Biotech recently announced that the European Medicines Agency (EMA) has granted the company’s investigational therapy KB103 orphan medicinal product designation for the treatment of dystrophic epidermolysis bullosa (DEB). KB103 is the first investigational non-infectious viral vector (HSV-1) gene therapy for DEB to receive this designation in Europe. In…

The U.S. Department of Defense awarded $3.8 million to a consortium working to develop stem cell-based therapies for patients with inherited skin diseases such as epidermolysis bullosa (EB) and for wound care. The federal defense grant is to advance “discoveries in stem cell-created skin grafts into the manufacturing stage,” according…

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…