News

For a teenage boy in Japan, it wasn’t until getting a second liver biopsy — nearly three years after his initial one — that he was accurately diagnosed with erythropoietic protoporphyria (EPP). This case highlights that “EPP should be considered in young patients with unexplained liver dysfunction, skin symptoms,…

Women with acute hepatic porphyria (AHP) were at a higher risk of developing high blood pressure and diabetes during pregnancy than their healthy counterparts, and their babies were more likely to be born small, according to a Swedish study. Those with acute intermittent porphyria (AIP) — the most common…

A man in his 40s with a history of acute intermittent porphyria (AIP) had an attack triggered by a COVID-19 infection after two years without any episodes, according to researchers. The AIP attack was complicated by rhabdomyolysis, a serious condition in which muscles break down. While the patient recovered…

MT-7117 (dersimelagon), an investigational oral therapy from Mitsubishi Tanabe Pharma, safely reduced sunlight sensitivity and improved quality of life in people with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) — two types of cutaneous porphyria, which primarily affects the skin — in a Phase 2 trial. Findings from…

For this year’s Porphyria Awareness Week (PAW), running April 15-22, the American Porphyria Foundation (APF) is putting a spotlight on those individuals with a rare genetic disease that falls under the disorder’s umbrella. The goal is to increase awareness of porphyria among the public, as well as advocate…

Enrollment is still underway in the Phase 2 clinical trial AURORA for bitopertin as a potential disease-modifying treatment for erythropoietic protoporphyria (EPP). AURORA (NCT05308472), which launched in October, is seeking to enroll up to 75 adults with EPP at several sites in the U.S. Meanwhile, data from…

In an extremely unusual case, a young man in Turkey diagnosed as a child with spinal muscular atrophy, a rare genetic neurological disease, was also found to have porphyria. “An individual carrying mutated genes for both diseases is similar to the odds of two pins colliding in mid-air,” its…

People in Brazil with acute hepatic porphyria (AHP) have a high prevalence of chronic symptoms and a poor quality of life, a retrospective registry study has found. This new work also reported a higher proportion of patients with recurrent attacks compared with previous studies. “Our study fortifies the knowledge…

A woman with unexplained abdominal pain and syndrome of inappropriate antidiuretic hormone secretion (SiADH) was eventually diagnosed with acute intermittent porphyria (AIP) after initial testing and misdiagnoses, a new case study reports. In SiADH, overproduction of antidiuretic hormone (ADH) causes the kidneys to reduce filtration significantly and retain more…

Treatment with Givlaari (givosiran) normalized disease-related laboratory parameters in a 47-year-old woman with acute intermittent porphyria (AIP) but she continued to experience severe symptom attacks despite getting normal test results. “We report a patient with AIP who experienced biochemical resolution of her [disease] with monthly [Givlaari] injections yet…