News

Symposium Offers Research, Treatment Updates

Experts will discuss the latest research related to porphyria, as well as current and emerging treatments and management strategies, at an upcoming symposium. The event will include a free patient day, open to both in-person and virtual attendees. “The Porphyrias Symposium … will bring together Porphyrias experts, treating…

New Institute Aims to Leave No Rare Disease Patient Behind

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…

Group Focuses on Rare Disease Clinical Trial Participation

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…

Rare Case of Elderly Patient Links Porphyria, Bone Marrow Cancer

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…

High Pregnancy Heme Precursor Levels Not Tied to Worse Symptoms

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,…

Register Now for Global Genes’ RARE Patient Advocacy Summit

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…