News

Rare Disease Day Events Bring Awareness, Equity to Patients

Since 2008, Rare Disease Day — the last day of February — has brought together patients, caregivers, family members, friends, and advocates from around the world to raise awareness and improve equity for the more than 7,000 known rare diseases that affect more than 300 million people. In 2022, the…

Methotrexate Might Help in Skin Healing in RDEB, Study Suggests

More than 2,000 transcripts — RNA molecules that derive from DNA and carry instructions for protein production — were found to be differentially produced between intact skin and wounds in people with recessive dystrophic epidermolysis bullosa (RDEB). Based on these findings, computer simulations identified the prescription medication methotrexate…

Pain With Dominant DEB Can Be Severe, Affecting Life Quality

Pain, but not wound size, significantly affects a person’s perception of disease severity with dominant dystrophic epidermolysis bullosa (DEB), a study reports. Chronic open wounds, difficulty swallowing or walking, and anal narrowing also plays into patients’ perceptions of their disease’s severity. The study, “Patient-reported outcomes and…

Gene-edited Spray-on Skin Cells May Show Promise for DEB

A gene-edited skin cell therapy — called Spray-On Skin cells — promotes skin healing by correcting the mutation associated with recessive dystrophic epidermolysis bullosa (DEB), preclinical research from Avita Medical shows. “These data, while early, demonstrate promise … for treatment of epidermolysis bullosa with gene-corrected skin cells,” Mike Perry,…

Celebrity Virtual Event Raises $2.4M for EB Research

The “Venture into Cures” virtual event raised more than $2.4 million to benefit the EB Research Partnership (EBRP), an organization dedicated to funding research into treatments and ultimately a cure for epidermolysis bullosa (EB). This second annual event, hosted by actor Tom Holland on Nov. 18, featured…

Vyjuvek, Topical Gene Therapy, Aids Wound Healing in DEB Trial

Treatment with Vyjuvek (previously called B-VEC) — a topical gene therapy for dystrophic epidermolysis bullosa (DEB) — improved wound healing with good tolerability over six months, according to top-line results of the Phase 3 GEM-3 trial. “We are thrilled to announce positive results from our pivotal GEM-3 trial of VYJUVEK…

Omalizumab May Be Effective, Safe for RDEB With High IgE Levels

Omalizumab — an antibody against immunoglobulin E (IgE) — may be effective and safe for wound healing in patients with recessive dystrophic epidermolysis bullosa (RDEB) and high IgE levels, a small study suggests. The treatment was also safe and well-tolerated, suggesting it may provide a therapeutic alternative for a disease…