News

Autoantibodies against a protein called GRP78 may lead to paraneoplastic cerebellar degeneration (PCD) in people with Lambert-Eaton myasthenic syndrome (LEMS), a study suggests. The study, “GRP78 antibodies are associated with blood-brain barrier breakdown in paraneoplastic cerebellar degeneration in Lambert‐Eaton myasthenic syndrome,” was published in the…

While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…

Lambert‐Eaton myasthenic syndrome-associated diaphragm weakness and subsequent respiratory problems may impair heart function, a case study shows. The report, “Lambert Eaton Myasthenic Syndrome Presenting as Hypoventilation-Induced Right Heart Dysfunction,” was accepted for presentation at the American Thoracic Society (ATS) 2020 International Conference, which was planned…

European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…

Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.

Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…

Despite the COVID-19 pandemic, Catalyst Pharmaceuticals is still expecting Firdapse (amifampridine) to be approved for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in Canada later this year, the company announced in an update. The company’s new drug submission (NDS) to Health Canada seeking approval…

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

Japanese patients with Lambert‐Eaton myasthenic syndrome (LEMS) show long-term neurological improvements with treatment regardless of whether they also have small cell lung cancer (SCLC), researchers report. The study, “Long‐term prognosis of Japanese Lambert–Eaton myasthenic syndrome patients with or without small‐cell lung carcinoma,” was published in the journal Clinical…

Increments, or increases in nerve responses, greater than 60% in electromyography (EMG) recordings upon short periods of exercise are better at diagnosing Lambert-Eaton myasthenic syndrome (LEMS) than the commonly used 100% increment, results from a recent study indicate. The study, “Lowering the…