News

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…

A large proportion of people with acute intermittent porphyria (AIP) may still be undiagnosed in China, according to a recent study — and without a proper diagnosis, they’re not receiving needed treatment, researchers say. “More nationwide epidemiological surveys and study of the prevalence rate of AIP patients in China are…

Impairments in endothelial cells — those that line blood vessels — are more likely to be found in people with severe acute hepatic porphyria who have active symptoms than among those without signs of the disease, a study revealed. Abnormal levels of biomarkers that reflect endothelial cell impairment also…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

People with porphyria have a 5% increased risk of developing primary liver cancer compared with the general population, according to a recent review study. The findings highlight the importance of regular cancer screenings in porphyria patients, especially those older than 50 years, researchers noted. The study, “…

The first case in China of a patient with the autoimmune disorder systemic lupus erythematosus (SLE) who also was diagnosed with hereditary coproporphyria (HCP) was described in a recent report. The patient was identified as a 30-year-old woman, treated at Peking Union Medical College Hospital, in Beijing, who was…

Undiagnosed hereditary coproporphyria (HCP) was the cause of psychiatric symptoms, including aggressive behaviors, delusions, and visual hallucinations, in a 66-year-old-man initially misdiagnosed with schizoaffective disorder, according to a recent case report. “Nonspecific symptoms of acute porphyria can mimic many other diseases and lead to delayed diagnosis or misdiagnosis,” the…