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…
Most people with porphyria who responded to a U.S.-based online survey report being generally satisfied with their treatment plan, and many are open to participating in clinical trials. About two-thirds of the 70 surveyed patients said they are content with their quality of life, but just as many are…
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 growing incidence of certain types of cancer among the elderly may indicate that an association between acquired erythropoietic uroporphyria (AEU) — a late-onset form of congenital erythropoietic porphyria (CEP) — and bone marrow malignancies may be more common than previously thought. The case of an 80-year-old man who…
The prevalence of advanced liver disease — including fatty liver disease — in patients with erythropoietic protoporphyria (EPP) is similar to that of the general population, according to a new Dutch study. Investigators also noted that the levels of protoporphyrin IX or PPIX, a heme precursor that tends…
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…
In women with acute hepatic porphyria (AHP), increased levels of heme precursors during pregnancy were not accompanied by symptom worsening, and most patients had no AHP-related complications, a Swedish study reports. Nonetheless, given that “it can be challenging to differentiate between manifestations of an acute attack and obstetrical,…
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…
Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…
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