In children with epidermolysis bullosa (EB) with airway involvement, a new strategy using both cell and gene therapy showed promise in a new study. Specifically, the reintroduction of the LAMA3 gene that codes for part of a protein called laminin 332 restored the ability of cells to form a healthy barrier in airway stem cells, according to researchers. Laminin 332 is key for maintaining the skin’s integrity. “Overall, our study provides early proof-of-principle data for a [viral]-based combined cell and gene therapy for patients with airway manifestations of EB,” the researchers wro ..read more

An inflammatory protein called interleukin (IL)-6 is found at higher levels in people with epidermolysis bullosa who have more severe disease and larger wounds, a study found, suggesting IL-6 may be used to monitor disease progression and response to treatment. The study, “IL-6 levels dominate the serum cytokine signature of severe epidermolysis bullosa: A prospective cohort study,” was published as a short report in the Journal of the European Academy of Dermatology & Venereology. Epidermolysis bullosa causes the skin to become fragile and likely to blister or tear from minor trauma ..read more

Earlier this week, my son Jonah and I had a visit with his pain doctor, Dr. Savi. She is the coolest, even in the eyes of the ultimate coolness judge, a 15-year-old boy. She oohs and aahs appropriately over Jonah’s growth. I tell her Jonah is now 5 feet, 2 inches tall, and Jonah corrects me by saying he’s 5 feet, 3 inches tall. Dr. Savi agrees with Jonah, as any cool doctor would, and congratulates him on his added inches and deepening voice. Then she asks him, “Jonah, do you have any friends or people you are close to in the epidermolysis bullosa (EB) community?” “No,” he replies. I let the ..read more

A man with severe, treatment-resistant epidermolysis bullosa acquisita (EBA) experienced sustained clinical remission for at least five years after rituximab therapy. Rituximab (sold in the U.S. as Rituxan and biosimilars) is an antibody that suppresses immune system activity by targeting immune B-cells — responsible for making antibodies, including the self-targeting antibodies that contribute to EBA. “This case adds to the existing evidence for rituximab in the management of EBA and demonstrates its long-term efficacy in managing severe recalcitrant [treatment-resistant] EBA,” researchers w ..read more

Abeona Therapeutics said its gene-corrected cell therapy, called pz-cel (prademagene zamikeracel), for recessive dystrophic epidermolysis bullosa (RDEB), is on track for a May 25 decision from the U.S. Food and Drug Administration (FDA), and the company is addressing concerns raised during a plant inspection. The FDA conducted a two-week inspection of the facility where the medication will be produced and noted concerns with “process controls,” Abeona said in a press release. The treatment is being considered for FDA approval under the priority review process, which is designed to get im ..read more

Almirall has licensed rights to develop and commercialize ZKN-013, an experimental oral treatment for recessive dystrophic epidermolysis bullosa (RDEB) and junctional epidermolysis bullosa (JEB). As part of the deal, Almirall is making an up-front payment of $3 million to ZKN-013’s original developer Eloxx Pharmaceuticals. Eloxx will also be eligible for additional payments of up to $470 million, plus royalties from sales, if the therapy is ultimately approved and brought to market. “We are very excited about this agreement with Almirall to develop and distribute ZKN-013 … we believe it ..read more

Every couple of years, I like to interview Jonah, my son with epidermolysis bullosa (EB), for this column. You can read past conversations here, here, and here. It’s important to me for the world to hear his voice, especially as he gets older. Ultimately, I’m just a humble player in his story, a supporting character hopefully helping him move from surviving to thriving. At the end of February, Jonah celebrated his 15th birthday. When he was diagnosed at birth, doctors told us there was an 85% chance he wouldn’t make it to his first birthday. Yet here we are, 15 years later. I’m sitting across ..read more

The enzyme polo-like kinase 1 (PLK1) may be a potential therapeutic target for squamous cell carcinoma (SCC) associated with recessive dystrophic epidermolysis bullosa (RDEB), according to an analysis of tumor tissue from an RDEB patient with recurring cancer. The gene that encodes PLK1 was almost seven times more active in tumor tissue than in the patient’s skin, the analysis showed. Inhibitors of PLK1, an enzyme that participates in cell cycle regulation, are under investigation in clinical trials to treat solid tumors. The findings might be clinically relevant because of that, the research ..read more

The 7th annual Plunge for Elodie is set to raise $500,000 for epidermolysis bullosa (EB) research, which would bring the total raised by the event to date to more than $2.5 million, the EB Research Partnership (EBRP) said. From March 10 to April 27, supporters will jump into freezing water at one of more than 20 official locations around the world. There’s also an option for a virtual plunge. Plunge for Elodie started in 2018 as a small, local fundraiser in Wellesley, Massachusetts. Named after Elodie Kubik, a girl born in 2016 with a severe form of EB, it was set up by childhood friends of E ..read more

Blocking the Notch signaling pathway — key to cell-to-cell communication — was found to significantly ease signs of fibrosis, or excessive scar tissue buildup, in skin cells from people with recessive dystrophic epidermolysis bullosa (RDEB) in a new study from Italy. According to the researchers, Notch signaling was elevated in these patient cells, where it was associated with pro-fibrotic effects. Such findings “could set the stage to design innovative therapeutic strategies to counteract RDEB-associated fibrosis and to offer RDEB patients a treatment they urgently need,” the team wrote. The ..read more