News

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…

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…

Filsuvez, a topical gel by Amryt Pharma, raises the probability of complete wound closure while reducing the time that wounds take to heal in people with epidermolysis bullosa (EB), new data from a Phase 3 clinical trial show. Investigators found a statistically significant 41.3% of patients treated Filsuvez had…

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…

A photo of a bespectacled young boy, his red baseball cap slightly askew as he  enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…

The last week in October is Epidermolysis Bullosa Awareness Week, and Debra branches in both the U.S. and the U.K. have events and initiatives planned to support the patient community. Through organizing events, sharing information on social media, and connecting with the epidemolysis bullosa (EB) community, the…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

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 nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…

The U.S. Food and Drug Administration (FDA) has given rare pediatric disease designation and fast track status to AGLE-102, a potential therapy for dystrophic epidermolysis bullosa (DEB) being developed by Aegle Therapeutics. Rare pediatric disease designations are awarded investigative treatments for serious or life-threatening…

A potential gene therapy for dystrophic epidermolysis bullosa (DEB) known as AP103 received a positive opinion from the Committee for Orphan Medicinal Products (COMP) — an arm of the European Medicines Agency — on a request for orphan drug designation. The European Commission typically grants this…

Filsuvez, a topical formulation being developed by Amryt Pharma, significantly improved wound closure in people with epidermolysis bullosa (EB) taking part in a Phase 3 clinical trial. According to Amryt, EASE (NCT03068780) is the first Phase 3 study to show a statistically significant increase in speed…