News

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

Scientists have identified two new variants in the COL7A1 gene associated with recessive dystrophic epidermolysis bullosa (RDEB) in a three-year-old Chinese girl. The findings expand the spectrum of known mutations causing the disease and also highlight the usefulness of two methods of genetic analyses — clinical exome…

Krystal Biotech has launched a pivotal Phase 3 clinical trial to investigate the topical gene therapy B-VEC (beremagene geperpavec) as a treatment for skin wounds in people with dystrophic epidermolysis bullosa (DEB). The GEM-3 trial (NCT04491604) is already recruiting participants with DEB at four sites in…

The combination of the oral antidepressant mirtazapine with a topical gel containing ketamine and amitriptyline successfully treated excessive itching in a man with epidermolysis bullosa pruriginosa (EBP). That case was described in the report “Epidermolysis Bullosa Pruriginosa successfully treated with concomitant topical and systemic…

Abeona Therapeutics has restarted patient enrollment in the VIITAL Phase 3 clinical trial of EB-101, a potential gene-corrected cell therapy for people with recessive dystrophic epidermolysis bullosa (RDEB). Recruitment into the VIITAL trial (NCT04227106), conducted at Stanford Medicine in California, had been placed on…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Intravenous immunoglobulin (IVIG) may be a promising treatment for reducing inflammation in severe epidermolysis bullosa pruriginosa (EBP) — a rare type of dystrophic epidermolysis bullosa (DEB) marked by severe itching of the skin — that fails to respond to other therapies, a case report suggests. A 43-year-old…

The topical cream SD-101 failed to improve wound healing in a Phase 3 trial in people with epidermolysis bullosa (EB), a study reports. The study, “Efficacy and tolerability of the investigational topical cream SD-101 (6% allantoin) in patients with epidermolysis bullosa: a phase 3, randomized, double-blind, vehicle-controlled…

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 Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

A CRISPR/Cas9-based gene editing strategy was able to restore production of type VII collagen protein (C7) in skin cells from a patient with severe dystrophic epidermolysis bullosa (DEB), a study shows. The finding shows that this method of DNA repair may be able to revert DEB-associated complications, researchers…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.