Disc Medicine’s experimental oral therapy bitopertin significantly reduced levels of protoporphyrin IX (PPIX), a light-sensitive molecule, and significantly increased pain-free time in light in a Phase 3 trial involving people with erythropoietic protoporphyria (EPP). That’s according to top-line data from the global Phase 3 APOLLO trial (NCT06910358),…
News
A woman with acute intermittent porphyria (AIP) who suffered an unusually severe attack marked by extensive muscle breakdown, kidney injury, profound weakness in all four limbs, and respiratory failure was helped by long-term treatment, according to a case report from Croatia. Treatment with hemin followed by long-term Givlaari…
Preventive treatment with intravenous hemin — a therapy commonly used to treat acute porphyria attacks — reduced attack risk over the following week in people with acute hepatic porphyria who received their scheduled preventive dose rather than placebo, according to results from a small clinical trial. “This randomized, double-blinded, placebo-controlled…
Seasonal recall bias — when a person’s memory of a previous time of year is distorted by the way they feel in the present — may lead erythropoietic protoporphyria (EPP) patients to remember their summer symptoms as more severe and their treatments as less effective when they are describing…
An experimental oral therapy that protects sensitive skin from painful reactions to sunlight is on track toward potential approval in the U.S. The U.S. Food and Drug Administration (FDA) has agreed to review an application seeking approval of the experimental oral therapy dersimelagon as a treatment for two types…
A young woman with tuberculosis and previously undiagnosed acute intermittent porphyria developed severe symptoms after starting standard antibiotics but improved with hemin and a modified regimen using medications considered safer for porphyria, according to a case report. Tuberculosis is an infection caused by the bacterium Mycobacterium tuberculosis. The woman’s…
A 67-year-old man with no psychiatric history was initially treated for mania with psychotic symptoms before abdominal pain, neurological symptoms, and dark urine prompted testing that supported a diagnosis of acute porphyria, a case report describes. One of his initial medications, valproic acid, can trigger or worsen porphyria attacks…
A 19-year-old woman who suffered four years of recurrent seizures and severe abdominal pain with no clear explanation found a possible answer when doctors tested her for acute intermittent porphyria (AIP). The woman had undergone repeated heart, neurological, and gastrointestinal tests that failed to explain her combination of symptoms.
A cell signaling pathway called Wnt-beta-catenin may serve as a potential therapeutic target in porphyrias that affect the liver, a new study suggests. Blocking this pathway attenuated heme production and activated the body’s natural cellular cleanup process, reducing the toxic buildup of porphyrins in a mouse model of porphyria.
Nerve damage affecting pain sensation and the autonomic nervous system, which controls involuntary body functions, persists for people with acute hepatic porphyria (AHP) between symptomatic attacks, according to a small study. Researchers used skin biopsies and a battery of autonomic function tests to show that this nerve damage, known as…
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