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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…
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…
A skin-like device that measures heart rate, breathing, blood oxygen, blood pressure, and body temperature may provide a safer way to monitor vital signs of those in intensive care who have fragile skin, such as newborns and patients with epidermolysis bullosa (EB). The…
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…
People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…
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