A newly developed treatment to prevent phototoxicity, or light-induced skin damage, was found effective in a mouse model of erythropoietic protoporphyria (EPP), a common form of porphyria marked by skin hypersensitivity to sunlight and some types of artificial light, a study showed. The novel oral therapy is designed to block ABCG2, a transporter…
The incidence of liver cancer is highest among adults with acute hepatic porphyrias (AHPs) who are older, female, symptomatic, and diagnosed with acute intermittent porphyria (AIP), one of the most common AHP subtypes. Those are the results of a pooled analysis of published studies conducted by a team of…
The so-called hCG diet for weight loss, which combines a low-calorie diet with injections of the pregnancy hormone human chorionic gonadotropin (hCG), aggravated acute intermittent porphyria (AIP) in a 34-year-old woman, according to a recent case study. This diet involves receiving hCG, a naturally produced pregnancy hormone that’s approved…
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…
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…
A woman with premenstrual pain and a brain condition called posterior reversible encephalopathy syndrome (PRES) was eventually diagnosed with acute intermittent porphyria (AIP), as described in a recent case report. “In patients with AIP and PRES, seizures are probably the most noticeable nervous system dysfunction during acute attacks,” the…
Five years of standard treatment did not slow the progression of congenital erythropoietic porphyria (CEP) — the rarest type of porphyria, marked by severe light sensitivity — in a young man in Armenia, according to a study on the first reported case of the condition in that country. For…
A 20-year-old Chinese woman experiencing bouts of abdominal pain and seizures eventually was diagnosed with acute intermittent porphyria (AIP), the most common form of acute porphyrias, after a series of tests. Her case highlights that “it is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe…
Surgical removal of the spleen effectively eased the signs and symptoms of severe congenital erythropoietic porphyria (CEP) in a 10-year-old boy with recurrent nose bleeds, according to a recent case report. “Our patient’s repeated [nose bleeds] is a rare and unreported clinical manifestation of this illness,” the scientists wrote.
Disc Medicine has been granted a U.S. patent for treating erythropoietic protoporphyrias (EPPs) with glycine transport inhibitors, such as its investigational oral therapy bitopertin. “We are pleased to have been issued this patent that further secures [intellectual property] protection for bitopertin for the treatment of erythropoietic protoporphyria as…
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