Patricia Inácio, PhD, science writer —

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to Tetra Bio-Pharma’s investigational cannabinoid cream PPP004 (THC-CBD) for the treatment of epidermolysis bullosa, the company has announced. Orphan drug status aims to encourage the development of therapies for rare diseases (those affecting less than 200,000 patients…

Family members caring for children with epidermolysis bullosa (EB) report considerable stress, fatigue and feelings of helplessness, and need greater social and financial support, a small Taiwanese study based on interviews with 10 caregivers reports. This need is particularly acute in Taiwan, its researchers note, because that country lacks…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Cannabinol (CBN), a rare type of cannabinoid, is the active component of InMed Pharmaceuticals‘ INM-755 treatment candidate for epidermolysis bullosa (EB). CBN is also the active component of InMed’s INM-088, being developed as a therapy to reduce pressure in the eyeball (intraocular) and confer neuroprotection for…

Castle Creek Pharmaceutical recently acquired Fibrocell Science and is now leading the development of treatments for epidermolysis bullosa (EB), including the investigational gene therapy FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). The companies had previously established a partnership to develop FCX-007. “Our organizations have a shared…

The Epidermolysis Bullosa iPS Cell Consortium has received $1.6 million in funding to develop stem cell-based therapies for people with inherited skin diseases such as epidermolysis bullosa (EB). A grant from the National Institutes of Health (NIH) 21st Century Cures Act provided $800,000, which was quickly matched by…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to APR-TD011, a spray therapy candidate for the treatment of epidermolysis bullosa (EB). This designation is intended to encourage the development of therapies for rare and serious diseases, which are expected to outperform existing alternatives. Among its…

Taking multiple precautions can ensure that pregnancy, delivery, and the postpartum period are uncomplicated in women with epidermolysis bullosa (EB) simplex, a case study reports. The research, “Management of epidermolysis bullosa simplex in pregnancy: A case report,” was published in the journal Case Reports in Women’s Health.

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…

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…

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…

Next-generation sequencing ­­­­— a technique that reads DNA sequences much faster and cheaper than standard approaches ­­­­— successfully identified a novel mutation in the LAMB3 gene in a newborn with junctional epidermolysis bullosa (EB), a case study reports. The study, “Targeted next-generation sequencing identifies a novel mutation of LAMB3 in…