News

A 21-year-old woman with congenital erythropoietic porphyria (CEP) — the rarest type of porphyria — required a liver transplant after she developed porto-sinusoidal vascular disease (PSVD), a condition characterized by high blood pressure, or hypertension, in the portal vein that runs through the liver. According to the authors, this…

The human immunodeficiency virus (HIV) was the trigger for porphyria cutanea tarda, a condition characterized by painful, blistering skin lesions from sun exposure, for a 33-year-old man in Spain, according to a recent case report. Once his HIV was under control, his porphyria also eased. His case was described…

CTX450, an investigational gene-editing therapy for acute hepatic porphyria (AHP), was able to normalize disease-associated biomarkers in a mouse model, showing its potential as a one-time intervention for the disease. CRISPR Therapeutics, the treatment’s developer, plans to launch studies to secure approval for first-in-human clinical trials, which are…

For this year’s Global Porphyria Day on May 18, supporters are encouraged to wear purple, decorate their homes in purple, and take to social media using the hashtag #PurpleforPorphyria to raise awareness about porphyria and share their stories. Advocacy organizations, including the United Porphyrias Association (UPA) and the Global…

Vitamin D supplementation significantly increases the levels of vitamin D and reduces its deficiency, which is prevalent in adults with erythropoietic protoporphyria (EPP), regardless of whether they’re being treated with Scenesse (afamelanotide), a recent study reports. However, treatment with Scenesse did not significantly affect the levels of vitamin D…

The United Porphyrias Association (UPA) and the nonprofit advocacy organization Shadow Jumpers are teaming up to give 20 U.S. children with sun sensitivity conditions, along with their families, a safe and special camp experience this May. The event, dubbed Sun Escape Weekend, will allow these children, ages 6-16,…

A wearable light sensor may be used to help track light exposure and predict the risk of symptoms for people with erythropoietic protoporphyria (EPP), a study found. “Our results show significant promise for [the device’s] use in EPP and suggest promise for other photosensitivity disorders,” the researchers wrote. The…

High levels of the amino acid homocysteine — a potentially harmful side effect of Givlaari (givosiran) — were successfully normalized by vitamin B6 supplementation in a woman with hard-to-treat acute intermittent porphyria (AIP), as described in a recent case report. “Our results confirmed the importance of monitoring homocysteine…

The Phase 2 AURORA clinical trial has met its main goal, demonstrating that treatment with the experimental oral medication bitopertin reduced the levels of protoporphyrin IX in people with erythropoietic protoporphyria (EPP). In EPP, disease symptoms are driven by the toxic buildup of protoporphyrin IX (abbreviated PPIX). Consistent…

The case of a young woman with recurrent abdominal pain who was diagnosed with acute intermittent porphyria (AIP) underscores the difficulties  diagnosing a rare disease that sometimes has vague and variable symptoms, said researchers in a recent case report. The woman’s menstrual cycle was a trigger for the pain…