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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Firdapse led to clinically significant improvements, compared with a placebo, in adult patients with Lambert-Eaton myasthenic syndrome (LEMS), according to full results of a Phase 3 trial. The results were published in the Journal of Clinical Neuromuscular Disease in a study titled “Amifampridine Phosphate (Firdapse) Is Effective in…

The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

A repetitive nerve stimulation test can help diagnose and differentiate between Lambert-Eaton myasthenic syndrome (LEMS) and myasthenia gravis (MG) patients undergoing a myasthenic crisis, a study shows. The study, “Repetitive nerve stimulation test in myasthenic crisis,” was published in the journal Muscle & Nerve.   LEMS and MG are…

In recognition of the economic burden that comes with a diagnosis of Lambert-Eaton Myasthenic Syndrome (LEMS), the Assistance Fund has opened a financial assistance program to help eligible patients pay out-of-pocket medical expenses. The Lambert-Eaton Myasthenic Syndrome Financial Assistance Program has more information on how to enroll at…

The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history— how disorders such as spinal muscle atrophy(SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical trials, and how…

Lambert-Eaton myasthenic syndrome (LEMS) can develop as an immune-related adverse event  caused by treatment with the anti-cancer therapy Opdivo (nivolumab), according to a case report. The study describes the case of a 73-year-old Japanese woman who started to…