News

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…

Touted as the South’s largest fundraiser for epidermolysis bullosa (EB), the third annual Believe in Brady event is set for April 7 in Houston, Texas. Benefiting the EB Research Partnership (EBRP), the fundraiser will be at Levy Park Conservancy from 4 to 7 p.m. It will…

A compound called rigosertib effectively suppressed tumor growth and induced selective death of cancer cells both in patient-derived cells and in mice with squamous cell carcinoma (SCC) and mice with recessive dystrophic epidermolysis bullosa (RDEB), according to a study. Based on these preclinical results, a Phase 1/2 clinical…

Patients with recessive dystrophic epidermolysis bullosa (RDEB), particularly those with delayed puberty, have a higher risk of osteoporosis — lower bone density — in the lumbar spine than healthy people of the same age, a study shows. The study, “Retrospective…

A case report of a patient with mild junctional epidermolysis bullosa (JEB) with kidney and lung involvement who showed blisters on different skin layers suggests that this type of epidermolysis bullosa (EB) should be classified as mixed instead of junctional. The study, “A Nonjunctional, Nonsyndromic Case of…

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.  A Phase 1/2 trial evaluating the investigational therapy PTR-01 for recessive dystrophic epidermolysis bullosa (RDEB) has started dosing patients. PTR-01 is a recombinant version…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bath dissertation, she analyzed Brexit’s long-term…

With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…