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An analysis of the control group from the ESSENCE Phase 3 clinical trial, which tested the topical cream SD-101 in people with epidermolysis bullosa (EB), found overall improvements in wound closure and less pain over a three-month period. The unexpectedly high response rate…
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…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
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…
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