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The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
Plant-based kaempferol — a compound with antioxidant and anti-inflammatory properties — enhanced the production in skin cells of C7, the protein that’s missing in people with dystrophic epidermolysis bullosa (DEB), a study demonstrated. The findings suggest that kaempferol may provide therapeutic benefits to DEB patients. As such, the…
Vyjuvek, a gene therapy gel (previously called B-VEC) by Krystal Biotech, safely and effectively improved wound healing in children and adults with recessive dystrophic epidermolysis bullosa (RDEB), according to data from a Phase 1/2 clinical trial. Importantly, resolved wounds remained closed for at least three months and up to eight…
The antibiotic gentamicin, given via an infusion into the bloodstream, promoted wound closure and increased the production of laminin 332 in five children with junctional epidermolysis bullosa (JEB) in a small clinical trial. Its researchers called for further study into this treatment as a potential long-term therapy for JEB. Results…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
The pivotal Phase 3 VIITAL clinical trial of EB-101, Abeona Therapeutics’ experimental cell therapy for wound healing in people with recessive dystrophic epidermolysis bullosa (RDEB), has met its enrollment target. The company also announced that top-line results from the VIITAL trial (NCT04227106) are expected…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
An imbalance both of immune signaling proteins and mediators of the itch response was found in the bloodstream of people with epidermolysis bullosa (EB) — for whom itch is a common and debilitating disease symptom — a study discovered. Given the findings, therapies targeting these proteins may be a…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
The U.S. Food and Drug Administration (FDA) has rejected an application seeking approval of Filsuvez (Oleogel-S10) for treating skin wounds in people with junctional (JEB) and dystrophic epidermolysis bullosa (DEB). In its complete response letter to Amryt Pharma, the therapy’s developer, the FDA stated that the…
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