Forest Ray PhD,  —

A Phase 2 trial of PTR-01 (also known as BBP-589) as a treatment for recessive dystrophic epidermolysis bullosa (RDEB) has dosed its first patient. The study, known as PTR-01-002 (NCT04599881), is taking place at Stanford University and Children’s Hospital Colorado. Enrollment is ongoing. Contact information can be found…

Topical ropivacaine, a local anesthetic marketed as Naropin, eased the pain associated with wound care in children with severe epidermolysis bullosa (EB) in a small clinical trial. The study, “Efficacy of topical ropivacaine in children and young adults with hereditary Epidermolysis Bullosa,” was published in…

Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…

Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…

Most people with epidermolysis bullosa (EB) want to participate in clinical research for potential new therapies, but find travel distances to trial sites and the risk of treatment side effects to be major challenges, a survey in Austria has found. The study, “Profiling trial burden and…

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…

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…

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.

The first patient has been treated in the VIITAL Phase 3 trial testing EB-101, a gene-corrected cell therapy candidate for people with recessive dystrophic epidermolysis bullosa (RDEB). Abeona Therapeutics, the company developing EB-101, announced the launch of this trial earlier this year following clearance…