News

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…

Autoantibodies against the GRP78 protein could explain why some Lambert-Eaton myasthenic syndrome (LEMS) patients develop paraneoplastic cerebellar degeneration (PCD), a study suggests. The GRP78-targeting autoantibodies may disrupt the blood-brain barrier that shields the central nervous system, allowing LEMS autoantibodies to reach the brain. The study, “GRP78 antibodies damage…

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…

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…

Catalyst Pharmaceuticals has taken the first step to expand its commercial territory to cover Japan and get Firdapse (amifampridine phosphate) approved as a treatment for Lambert-Eaton myasthenic syndrome (LEMS) in the country. The company announced it has amended the original license agreement of Firdapse, which was signed…

Patients who have Lambert-Eaton myasthenic syndrome (LEMS) associated with small cell lung cancer (SCLC) are easier to diagnose and have a higher prevalence of ataxia (loss of movement control) compared to those who have LEMS unrelated to cancer, a study says. The study, “Clinical characteristics and…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies(NCATS) at the…

The U.S. Food and Drug Administration (FDA) has approved Ruzurgi (amifampridine) for the treatment of children ages 6–17 with Lambert-Eaton myasthenic syndrome (LEMS). The approval makes Ruzurgi, developed by Jacobus Pharmaceutical, the only therapy approved for children with LEMS. In December 2018, the FDA announced the approval of…