News

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

KB103, Krystal Biotech‘s investigational topical gene therapy for treating dystrophic epidermolysis bullosa (DEB), continues to show promise in the treatment of skin wounds and has received the designation of regenerative medicine advanced therapy (RMAT) from the U.S. Food and Drug Administration (FDA). DEB is a…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

A skin-like device that measures heart rate, breathing, blood oxygen, blood pressure, and body temperature may provide a safer way to monitor vital signs of those in intensive care who have fragile skin, such as newborns and patients with epidermolysis bullosa (EB). The…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

EB-101, a cell therapy candidate from Abeona Therapeutics, induced sustained wound healing lasting for three years or more in a large proportion of people with recessive dystrophic epidermolysis bullosa (RDEB), the long-term follow-up of a Phase 1/2 trial shows. Data were detailed at the 77th Annual Meeting of the…

Fibrocell Science’s investigational gene therapy FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB) has received the regenerative medicine advanced therapy (RMAT) designation from the U.S. Food and Drug Administration (FDA). The new status adds to the rare pediatric disease and fast track designations…

The first patient with epidermolysis bullosa has received treatment with RegeneRx Biopharmaceuticals‘ investigational therapy RGN-137 in a Phase 2 clinical trial in the U.S., the company announced. RGN-137 is a gel formulation medication intended to accelerate wound healing when applied directly onto skin lesions. It is based on…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Gene therapy using CRISPR-Cas9 enabled precise correction in the lab of defective skin cells from a patient with recessive dystrophic epidermolysis bullosa, showing promise as a safer and more efficient way to treat the disease, compared with viral-dependent…

A new company called Wings Therapeutics has been tasked with continuing the development of QR-313, an investigational RNA therapy for dystrophic epidermolysis bullosa (DEB), following a spin-out from ProQR Therapeutics…