Patricia Inácio, PhD, science writer —

Topical administration of the antibiotic gentamicin to the eye restored the production of a key skin health protein called laminin 332 while rapidly lessening eye lesions in a woman with junctional epidermolysis bullosa (JEB), a study reports. The study, “Topical gentamicin ointment induces LAMB3 nonsense mutation…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

A 13-year-old boy with recessive dystrophic epidermolysis bullosa (RDEB) had his skin lesions eased after surgeons transplanted a skin graft grown from his back, according to a case study report. The study, “A case of recessive dystrophic epidermolysis bullosa treated with a cultured epidermal autograft,” was published in…

Infection by the bacteria Staphylococcus aureus is detected in most wounds of patients with epidermolysis bullosa (EB), according to an analysis of a U.S. and Canadian database. The study “Characterization of wound microbes in epidermolysis bullosa: Results from the epidermolysis bullosa clinical characterization and outcomes database” was…

A gel made from platelets — tiny cells involved in blood clotting — that were collected from umbilical cord blood was better and faster at promoting wound healing in children with recessive dystrophic epidermolysis bullosa (RDEB) than a standard approach, a pilot study found. The children were treated with the…

A modified version of cannabidiol has potent antioxidant and anti-inflammatory properties that may help to treat epidermolysis bullosa (EB), research suggests. Cannabidiol, or CBD, is one of the most studied active chemicals — called cannabinoids — of the cannabis plant. CBD is devoid of the mind-altering effects…

A first patient has been treated in a Phase 3 trial testing the investigational gene therapy D-Fi (debcoemagene autoficel), formerly known as FCX-007, on wounds in people with recessive dystrophic epidermolysis bullosa (RDEB). “Our late-stage Phase 3 trial of D-Fi continues to progress for the localized treatment…

Two novel mutations in the COL7A1 gene have been linked to epidermolysis bullosa pruriginosa (EBP), which is characterized by severe itching of the skin, or pruritus, according to a case report. The case study, “Epidermolysis Bullosa Pruriginosa associated with recessive homozygous mutations in COL7A1:…

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…