Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
News
A rare case of a woman with acute intermittent porphyria (AIP) complicated by posterior reversible encephalopathy syndrome (PRES), a neurological disorder characterized by seizures, was described in a report. Because some common anti-seizure therapies…
An Argentinian man with two different porphyria-causing mutations was described in a new case report. The unusual findings highlight the importance of thorough clinical and molecular analyses in such cases to better define treatment strategies, researchers said. The report, “Acute Intermittent Porphyria in a Man with…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
People with acute intermittent porphyria (AIP) have structural changes in the brain, namely an enlargement of the brain’s ventricles — a set of four communicating cavities — associated with a reduction in the brain’s blood flow, a study suggests. A liver-targeted gene therapy designed to restore the levels of…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
Voting is underway for the 2021 Pet Calendar Contest organized by the American Porphyria Foundation (APF). Through Oct. 30, people can vote for their favorite pets, with each vote requiring a $2 donation. Information about the competing pets, as well as links to make vote and add an…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
Treatment with Panhematin (hemin for injection) is associated with a 78% lower average annual total cost of care compared with Givlaari (givosiran) in people with acute intermittent porphyria (AIP) in the U.S., a study reports. Panhematin-associated cost savings were greatest for AIP patients with one acute…
A recent large analysis indicates that the prevalence of erythropoietic protoporphyria (EPP) is nearly 2.3 times higher than previously estimated in the U.K. The analysis of the UK Biobank data set, which includes more than 500,000 people, also identified an…
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