News

Scientists believe Firdapse (amifampridine phosphate) will soon become first-line management therapy for Lambert-Eaton myasthenic syndrome (LEMS), due to its stability, low-dose variability, good tolerability, and effectiveness, a review says. The study, “Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug,”…

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…

Merkel cell carcinoma (MCC) should be included in the differential diagnosis of patients with Lambert-Eaton myasthenic syndrome (LEMS) who do not have lung cancer, a case report says. The case study, “Lambert-Eaton Myasthenic Syndrome and Merkel Cell Carcinoma,” was published in Cutis MDedge Dermatology.

The Triple-Timed Up-and-Go (3TUG) test is a rapid, non-invasive, reliable, and reproducible measurement for assessing muscle weakness in people with Lambert-Eaton myasthenic syndrome (LEMS), analysis of the Phase 2 DAPPER trial shows. The study, “Validation of the Triple Timed Up-and-Go Test in Lambert-Eaton Myasthenia,” was published in the…

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…