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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

Amryt Pharma is conducting a Phase 3 clinical trial evaluating the effectiveness and long-term safety of Oleogel-S10 (AP101), a topical formulation of birch bark extract, for accelerating wound healing in patients with epidermolysis bullosa (EB). EASE is a pivotal study designed to support regulatory submissions seeking approval…

With its lead therapy candidate AGLE-103 set to begin clinical testing in the coming months, Aegle Therapeutics is being honored with a Partners in Progress Award by the Dystrophic Epidermolysis Bullosa Research Association of America (Debra of America). Aegle is among three companies being recognized for its efforts to…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

An experimental cell therapy where a patient’s own skin cells (fibroblasts) are engineered in the lab to carry a healthy COL7A1 gene and then injected back into the patient is safe and potentially efficacious for treatment of recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study, “…

Transplanting a patient’s own healthy skin to treat their skin ulcers was found to be safe and effective for three people with recessive dystrophic epidermolysis bullosa (RDEB) for more than one year, a clinical trial shows. The study, “Cultured epidermal autografts from clinically revertant skin as…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

The U.S. Food and Drug Administration (FDA) has released a guidance document to assist and encourage industry in developing new treatment options for the rare skin disorder epidermolysis bullosa (EB). “The paucity of effective treatment options for EB represents an important…

The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the most determined. At that time, few doctors in the developing country of 2 million — now called North Macedonia — had…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

KB103, Krystal Biotech‘s investigational topical gene therapy for treating dystrophic epidermolysis bullosa (DEB), continues to show promise in the treatment of skin wounds and has received the designation of regenerative medicine advanced therapy (RMAT) from the U.S. Food and Drug Administration (FDA). DEB is a…