News

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Abeona Therapeutics will proceed with enrollment for its pivotal Phase 3 study of EB-101 as a treatment for recessive dystrophic epidermolysis bullosa (RDEB), following a meeting with the U.S. Food and Drug Administration (FDA). “We appreciate the clarity provided by the FDA and we are pleased to be…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

INM-755, an investigational cannabinol cream for epidermolysis bullosa (EB), showed a positive safety profile and did not interfere with normal healing in a Phase 1 clinical trial conducted in healthy volunteers with open wounds, according to a press release from the cream’s developer, InMed Pharmaceuticals. INM-755…

Four previously unknown disease-causing mutations in the COL7A1 gene are identified in a case report describing the clinical features of five Southeast Asian patients with self-improving dystrophic epidermolysis bullosa (DEB).  The five cases — the first reported among patients with Southeast…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AP103, a potential topical gene therapy for dystrophic epidermolysis bullosa (DEB). “Receiving an orphan drug designation from the FDA for our gene-therapy candidate, AP103, is a significant development for patients suffering…

Epidermolysis bullosa (EB) may be more common in the Netherlands than previously assumed, a long-term Dutch study suggests. Results showed that EB now has a higher prevalence — the number of cases present in a particular population at a given time — than had been thought. Notably, EB simplex…

A gel made from platelets — tiny cells involved in blood clotting — that were collected from umbilical cord blood was better and faster at promoting wound healing in children with recessive dystrophic epidermolysis bullosa (RDEB) than a standard approach, a pilot study found. The children were treated with the…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

INM-755, an investigational cannabinol cream for epidermolysis bullosa (EB), showed a good safety profile in a Phase 1 clinical trial conducted in healthy volunteers, according to a press release from InMed Pharmaceuticals, which is developing the treatment. INM-755 is a topical cream containing cannabinol (CBN), a compound…