News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

A rare case of non-small cell lung cancer (NSCLC) was discovered in a patient with paraneoplastic cerebellar degeneration and Lambert-Eaton myasthenic syndrome (PCD-LEMS) — the first report to link the cancer to late-onset PCD-LEMS, according to researchers. Their study, “Non-small cell lung cancer associated with late-onset Lambert–Eaton myasthenic syndrome…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Treatment with Firdapse (Amifampridine phosphate) or Ruzurgi (3,4‐diaminopyridine, or 3,4‐DAP) is effective and well-tolerated among people with Lambert-Eaton myasthenic syndrome (LEMS), even in the presence of immunosuppressants or other medications that alter the responsiveness of the immune system, a review has found. The review study,…

Diagnosing Lambert-Eaton myasthenic syndrome (LEMS) as early as possible is key for effectively managing the disease, according to a review study, which also highlights the need to test for small cell lung cancer in these patients. The review, “Lambert-Eaton Myasthenic syndrome: early diagnosis is key,”…

A study provided an overview of the use of amifampridine (brand names  Firdapse and the recently approved Ruzurgi), along with other treatment choices for Lambert-Eaton myasthenic syndrome, including those for resistant muscle weakness. The review study, “Recent Advances and Therapeutic Options in Lambert-Eaton Myasthenic Syndrome,” was published…

A 71-year-old man has been diagnosed with both Lambert-Eaton myasthenic syndrome (LEMS) and thymic small cell cancer in a rare case study linking the two conditions. The study, titled “Thymic small cell carcinoma associated with Lambert–Eaton myasthenic syndrome,” appeared in The Annals of Thoracic Surgery. Thymic…

Amifampridine-based medications are the most effective and safest options for managing symptoms of Lambert-Eaton myasthenic syndrome (LEMS), and should be chosen as the first-line management therapy for the rare autoimmune disorder, a review proposes. The study, “Amifampridine for the treatment of Lambert-Eaton myasthenic syndrome,” was published…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…