News

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…

Cholinesterase inhibitors may be useful in controlling the symptoms of Lambert-Eaton myasthenic syndrome (LEMS) in people with relatively mild disease, as highlighted in a recent case report. The findings suggest that these medications may be particularly useful for managing LEMS in countries where Firdapse (amifampridine) — the…

Football and science seem to be disparate fields of play at first glance, but the nonprofit Uplifting Athletes is finding common ground by leveraging the popularity of college gridiron games to fund research for rare diseases. Its nearly two dozen chapters — representing college football teams across the nation…

Jacobus Pharmaceutical has issued a voluntary recall for three lots of Ruzurgi (amifampridine), a medication that is approved in the U.S. to treat people with Lambert-Eaton myasthenic syndrome (LEMS) ages 6–17. According to the company’s announcement, while doing confirmatory full testing on one of the lots, control…

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

Immunofluorescence, a technique that can be used to detect antibodies associated with Lambert-Eaton myasthenic syndrome (LEMS), was negative in a 72-year-old woman, but another technique — called immunoblot — was positive for LEMS-associated antibodies. This ultimately allowed for a LEMS diagnosis and the discovery of a previously unknown tumor.

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…