The case of an 8-year-old girl with Lambert-Eaton myasthenic syndrome (LEMS) who had no signs of a tumor, but had progressive muscle weakness, shows the need for comprehensive analysis and thorough investigation to prevent treatment delays. The report, “Lambert-Eaton myasthenic syndrome in a young girl,” was published in…
Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…
A simple, noninvasive test on the skin, called skin sympathetic response, can be used to confirm impairments in the autonomic nervous system — the non-conscious part of the nervous system that controls several bodily functions — in people with Lambert-Eaton myasthenic syndrome (LEMS), according to a case study. The…
Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…
The Federal Court of Canada has issued a decision that, for the second time, sets aside Health Canada’s approval of Ruzurgi (amifampridine) to treat Lambert-Eaton myasthenic syndrome (LEMS) in patients 6 and older. The decision is a legal victory for Catalyst Pharmaceuticals and its Canadian sublicensee, KYE…
Horizon Therapeutics has launched its #RAREis Representation program aimed at increasing diversity, equity, and inclusion among patients with rare diseases. There are about 400 million people worldwide living with a rare disease; for many of them, access to diagnosis, care, and treatments can be challenging. Accessing better care depends on…
Catalyst Pharmaceuticals has secured three new U.S. patents covering the use of Firdapse (amifampridine) for treating Lambert-Eaton myasthenic syndrome (LEMS). The United States Patent and Trademark Office informed Catalyst that one new patent will be issued on March 8 and two more a week later on March 15.
Bionews, the publisher of this website, hosted a virtual panel discussion on Rare Disease Day 2022, taking a deeper dive into what it’s like to live with a rare disease, including conversations about advocacy, mental health, survivor’s guilt, treatment of minority patients, and more. The Monday event, “A…
Catalyst Pharmaceuticals kicked off this year’s Rare Disease Day, along with rare disease advocacy partners, with a virtual opening bell ceremony at the Nasdaq stock market. “Catalyst Pharmaceuticals and our dedicated team of employees, patients, and numerous patient advocacy groups are thrilled to be here at Nasdaq today for…
A rare disease puts an economic burden on the patients, families, and caregivers that it affects, and will no doubt be an integral part of discussions on Rare Disease Day 2022, which brings international awareness about the more than 300 million people living with rare disorders. Part of that…
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