News

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…

A provisional diagnosis based on clinical information is more accurate than imaging of skin biopsies in newborns and infants with inherited epidermolysis bullosa (EB), according to a new study. The research, “A retrospective cohort study evaluating the accuracy of clinical diagnosis compared to immunofluorescence and electron…

The case report of a patient with severe epidermolysis bullosa underscores the importance of a multidisciplinary approach involving skin protection, care of the wounds, nutritional support, and medical intervention. The study, “A case of a patient with severe epidermolysis bullosa surviving to adulthood,” was published in the …

Increased levels of a protein called decorin extended survival, reduced skin fibrosis (scarring) and delayed the development of paw deformities and other key recessive dystrophic epidermolysis bullosa (RDEB) manifestations in a mouse model. The study, “Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa,”…

Krystal Biotech has completed the construction of its new manufacturing facility Ancoris, which will support the clinical and commercial development of KB103, its lead product candidate for the treatment of dystrophic epidermolysis bullosa (DEB). Ancoris was designed to meet all projected commercial demands of KB103. Located near…

After an interim analysis of a Phase 3 trial testing Amryt Pharma’s investigational therapy AP101 in epidermolysis bullosa (EB) patients, an independent data monitoring committee (IDMC) has recommended the trial’s continuation, along with an increase in participants. The enrollment of 48 additional patients, up to a total of 230, is…

King’s College London researchers created a new type of dressing glove for those with epidermolysis bullosa (EB), based on patients’ feedback. The glove was designed to adapt to patients’ hands, keeping fingers separated, facilitating wound dressing and improving their quality of life. The findings of the study, “Iterative codesign and…

Diagnostic testing in patients with epidermolysis bullosa (EB) is more frequent in the most severe disease types, according to a large study in North America. The findings also revealed a delay between showing signs at birth and clinical diagnosis in a subset of patients with recessive dystrophic EB…

The collagen XVII mutation p.R1303Q that causes late-onset, mild junctional epidermolysis bullosa (JEB) is characterized by a weaker collagen XVII connection to another adhesion molecule in the skin, called laminin-332, leading to blistering and thinning skin, a support study says. The study, “…

All four patients with dystrophic epidermolysis bullosa (DEB) enrolled in a Phase 2 study testing the safety and efficacy of Krystal Biotech’s topical gene therapy candidate KB103 have received the treatment. Results are expected to be known by mid-year. The protein type 7 collagen (Col7) binds the two top layers…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

The EB Research Partnership (EBRP) and Epidermolysis Bullosa Medical Research Foundation (EBMRF) granted $900,000 to Fibrocell, a gene therapy company, to support the clinical development of FCX-007 to possibly treat recessive dystrophic epidermolysis bullosa (RDEB). “We are grateful for this investment from EBRP and EBMRF that…