News

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

InMed Pharmaceuticals has requested approval to start a Phase 1 trial in the Netherlands to test the cannabinoid-based treatment candidate INM-755 for epidermolysis bullosa (EB). Pending approval, the company plans to enroll patients until the end of the year. INM-755 is a topical cream being developed to…

Topical treatment with B-VEC, formerly known as KB103, is safe and leads to complete and durable wound healing in people with recessive dystrophic epidermolysis bullosa (RDEB), final results from a small Phase 1/2 trial suggest. RDEB is caused by mutations in the COL7A1 gene. This leads to…

The experimental cell therapy EB-101 was safe and led to successful wound healing in seven adults with recessive dystrophic epidermolysis bullosa (RDEB), followed-up for five years, the results of a Phase 1/2a clinical trial show. The study detailing the results, “Phase 1/2a clinical trial of gene-corrected…

The investigational oral treatment Serlopitant may be able to reduce itching in people with epidermolysis bullosa (EB), results from a small Phase 2 clinical trial suggest. However, most results did not achieve statistical significance, which means further studies will be needed to draw firm conclusions. The results were…

New guidelines on foot care for people with epidermolysis bullosa (EB) highlight the benefits of proper care and footwear, and recommend that a podiatrist be involved in routine health checks for people with EB. The guidelines, “Foot care in Epidermolysis bullosa: Evidence-based Guideline,” were published in the …

The U.S. Food and Drug Administration (FDA) has refused to approve the initiation of Abeona Therapeutics‘s Phase 3 clinical trial evaluating its gene-corrected cell therapy EB-101 for recessive dystrophic epidermolysis bullosa (RDEB). The clinical hold, the company explained, is…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

A novel gene editing technique was able to correct mutations in COL7A1 in cells taken from people with recessive dystrophic epidermolysis bullosa (RDEB), providing a proof of concept for using the editing technique in the disease. The finding was published in the Journal of Investigative Dermatology in a study titled,…

A type of wound dressing, called dialkylcarbamoylchloride (DAAC)‐coated cotton acetate, closes infected wounds related to epidermolysis bullosa (EB) faster than the standard saline dressing plus a topic antibiotic, and with similar antibacterial effects, a study found. The study, “Clinical efficacy of dialkyl-carbamoyl chloride‐coated cotton acetate dressing…

Cell therapy with genetically engineered skin grafts requires that collagen type VII be “corrected” in two types of skin cells — keratinocytes and fibroblasts — to be effective against recessive dystrophic epidermolysis bullosa (RDEB), a study in mice has found. Researchers saw that only skin models made of collagen…

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest.    Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…