A young woman in France experienced a stroke as a reversible neurological consequence of an acute intermittent porphyria (AIP) attack that blocked blood flow to the brain, according to a recent case report. “The findings in our patient document reversible arterial narrowing” that caused the blood flow to be…
People with acute hepatic porphyria (AHP) having recurrent attacks are burdened with chronic symptoms between those attacks, according to data from the natural history EXPLORE study. High disease burden was also observed in patients having fewer porphyria attacks — less than three in the absence of preventive treatment for…
Givlaari (givosiran) can effectively control symptoms of acute hepatic porphyria (AHP), reducing disease burden, even in patients with low attack rates. That’s according to a post hoc analysis of the Phase 3 ENVISION trial (NCT03338816). As noted by researchers, these results support the long-term benefits of Givlaari…
People with acute intermittent porphyria (AIP) who have health problems related to the kidneys or liver are more likely to have issues with oral health than those without the genetic disorder, according to a new study. Specifically, patients with kidney failure or liver scarring were found to have worse…
Two new algorithms that can accurately diagnose acute and cutaneous porphyria have been developed and validated, a study from Belgium reports. According to study’s authors, these algorithms can be used to help clinicians correctly interpret porphyria-related lab tests. “To our knowledge, this is the first time that diagnostic algorithms…
Women with acute hepatic porphyria (AHP) who experience sporadic attacks reported facing chronic symptoms and significant disruptions to their daily activities around each attack, according to a recent study. During patient interviews, these women also frequently described symptom “flares” that they did not consider to be an acute porphyria…
Disc Medicine has launched a Phase 2 trial of bitopertin, an investigational oral treatment for erythropoietic porphyrias. Dubbed BEACON, the open-label trial will investigate the safety, tolerability, and efficacy of multiple doses of bitopertin in about 20 patients with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) at sites…
A 26-year-old woman with acute intermittent porphyria (AIP) was successfully treated with hemin and is recovering, despite delays due to an initial misdiagnosis with the rare neurological disorder Guillain-Barré syndrome, according to a case report. The patient ended up on invasive ventilation at a hospital in Ecuador before being…
A pre-surgery light sensitivity test and appropriate skin coverage during surgery allowed a safe and successful laparoscopy — a type of minimally invasive operation in the abdomen or pelvis — in a man with erythropoietic protoporphyria (EPP), scientists report. Since EPP is marked by skin hypersensitivity to sunlight and…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
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