News

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.

A new collaboration between the University Carlos III Madrid (UC3M), Almirall, and the Medina Foundation aims to find treatments for recessive dystrophic epidermolysis bullosa (RDEB) and other genetic diseases caused by nonsense mutations, or those that result in shortened proteins. The project is partially funded by…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Treatment with PTR-01 is well-tolerated and safe, and increases the levels of collagen type VII (C7) in the skin of adults with recessive dystrophic epidermolysis bullosa (RDEB), early data from a Phase 1/2 trial show. The PTR-01-001 study (NCT03752905) seeks to evaluate PTR-01 treatment in…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…