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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…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Fibrocell Science and Castle Creek Pharmaceuticals are partnering to further develop the investigational gene therapy FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). Under the collaboration, Castle Creek will support all development and manufacturing costs and will receive an exclusive license to commercialize FCX-007…

Note: This story has been updated to note that the gene that codes for collagen type VII protein is the COL7A1 gene, not the C7 gene.  Phoenix Tissue Repair’s investigational therapy PTR-01 was granted fast track designation by the U.S. Food and Drug Administration (FDA) for the treatment of recessive…

JCR Pharmaceuticals is asking regulators in Japan to extend the use of Temcell HS Injection to epidermolysis bullosa (EB) patients in that country as a wound healing treatment. Temcell HS is a mesenchymal stem cell therapy that approved to treat acute graft versus host disease (aGVHD), a severe complication of allogeneic (donor-derived) bone…

The topical gene therapy candidate KB103 to treat dystrophic epidermolysis bullosa (DEB) has been granted PRIME (PRIority MEdicines) designation by the European Medicines Agency (EMA). KB103 is a gene therapy candidate developed by Krystal Biotech to deliver a functional COL7A1 gene directly to skin cells using a modified and…