Six months of treatment with Givlaari (givosiran) effectively reduced pain during and between porphyria attacks in people with acute hepatic porphyria (AHP), also known as acute porphyria, according to a post-hoc analysis of data from the Phase 3 ENVISION trial. Givlaari also was found to lower the use of…
Nearly 25% of people, mostly women, with acute intermittent porphyria (AIP) also have chronic nerve damage — a condition known as neuropathy — and use high amounts of pain medications, according to an analysis of a U.S. healthcare claims database. Based on these findings, when diagnosing and treating AIP…
Abdominal pain and nausea in a woman having an acute porphyria attack was initially misdiagnosed as a natural response to the early stages of a pregnancy, a recent case study reported. Her case, its authors noted, highlighted the importance of performing urine screening tests whenever porphyria is suspected,…
Activities are afoot to mark Porphyria Awareness Week — taking place April 10–17 this year — set aside annually to call attention to this group of inherited disorders that affect an estimated 1 in 500 to 1 in 50,000 individuals globally. Supporters are encouraged to engage in Zoom sessions and…
People with symptomatic acute intermittent porphyria (AIP) should be monitored regularly, as this disorder can affect their quality of life even if their attacks are infrequent. A recent study with that finding revealed evidence of significant chronic symptoms and long-term medical conditions among patients with sporadic AIP, as compared to…
A portrait of Morgan McKillop, a pre-teen who has erythropoietic protoporphyria (EPP) and is an active member of the American Porphyria Foundation (APF), has been chosen to be a part of an art gallery of faces representing rare diseases. McKillop’s image, which is done in muted tones and…
Soleo Health announced it will start to administer Givlaari (givosiran), an injectable treatment by Alnylam Pharmaceuticals’ for adults with acute hepatic porphyria (AHP). “We are once again expanding our portfolio of infusible and injectable specialty pharmaceuticals to elevate our levels of quality patient care and therapeutic service offerings.
A woman with the rarest type of porphyria, called congenital erythropoietic porphyria or CEP, was successfully treated by regular blood removal — a procedure called phlebotomy — which lowered her blood iron levels, reduced urinary porphyrins, and eliminated sun-sensitive skin blisters, a case study showed. …
Inherited, genetic late-onset erythropoietic protoporphyria (EPP), a rare form of EPP that usually manifests later in life, should be included when considering a diagnosis of adults with generally mild skin itching and rashes in sun-exposed areas, a review study proposed. The study, “Inherited genetic late‐onset erythropoietic protoporphyria: A systematic…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…
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