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…
News
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…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
Porphyria is associated with a significant financial healthcare burden in the United States, which is driven mainly by hospital admissions, outpatient visits, and medical bills, a study reported. The study, “Healthcare Utilization and Cost Burden of Porphyria in Commercially Insured Adults in the United States,” was published…
It took one year for Dona Krystosek to get a diagnosis for her son, Levi, after he was born. The family received three misdiagnoses of fatal diseases until they found out Levi has Jansen’s metaphyseal chondrodysplasia — an extremely rare form of dwarfism. “The hardest…
A Phase 3 clinical trial of MT-7117 (dersimelagon), Mitsubishi Tanabe Pharma‘s experimental treatment for erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP), is now enrolling participants at three sites in the U.S. The three locations are in Winston-Salem, N.C., Columbus, Ohio, and Boston. More information on the trial sites, including…
Recent Posts
- Because of AIP, I’m no longer the dependable person I once was
- During acute AIP attacks, high levels seen for 2 compounds in urine: Study
- Advocating for porphyria treatment has both roses and thorns
- Teen with AIP develops seizures, rare brain condition in case report
- I am a blessed porphyria warrior who is AIP, or accepting it positively
- Rare clot in AIP case tied to symptoms resembling flare, study finds
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- Liver transplant was ‘Trojan horse’ for baby’s variegate porphyria
- With AIP, even minor decisions can have a big impact on life