Author Archives: Marta Figueiredo PhD

Leaders of the U.S. House Energy and Commerce Committee and two senators have taken action to clarify the original intent of the orphan drug act (ODA) that the U.S. Food and Drug Administration (FDA) applies to help speed therapy development for rare diseases. Sens. Bill Cassidy, R-Louisiana, and Tammy Baldwin, D-Wisconsin,…

Blood levels of long non-coding RNA LOC338963 and its potential target AP3B2 — a protein in nerve cells — are significantly increased in people with cancer-associated Lambert-Eaton myasthenic syndrome (LEMS) relative to healthy people, LEMS patients without cancer, and people with cancer, a study shows. The data also suggest…

Since late November and embracing the holiday spirit, the National Organization for Rare Disorders (NORD) has been sharing a series of previously exclusive videos from its 2021 Living Rare Living Stronger Patient and Family Forum, aiming to improve the lives of people with rare diseases and their families.

Health Canada has re-issued its approval of Ruzurgi (amifampridine) for the treatment of Lambert-Eaton myasthenic syndrome (LEMS) in patients 6 and older. The decision comes two months after the Federal Court in Canada cancelled the therapy’s approval in the country due to data protection-related issues filed by Catalyst Pharmaceuticals, which commercializes…

Plasmapheresis, or plasma exchange, may be an effective way of managing small cell lung cancer-associated Lambert-Eaton myasthenic syndrome (LEMS) and paraneoplastic cerebellar degeneration (PCD), combined with peripheral nerve damage, a case report suggests. The simultaneous development of LEMS and PCD is usually associated with small cell lung cancer (SCLC)…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

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…