The BEACON and AURORA Phase 2 clinical trials testing the investigational oral therapy bitopertin in people with erythropoietic porphyrias have completed enrollment, according to an update from therapy developer Disc Medicine. BEACON (ACTRN12622000799752), which began enrolling adults with erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) at sites…
News
A man with erythropoietic protoporphyria (EPP) and severe liver disease successfully underwent a rare, live-donor liver transplant with his wife as the donor of a portion of the organ, according to a recent case report. Special precautions, including light protection and medication adjustments, were taken due to the man’s…
A high financial burden is associated with acute hepatic porphyria (AHP) — one particularly driven by hospitalization and medical costs to manage disease attacks — a new study found. Also adding to the financial burden was time off work due to AHP, which averaged about two months per year…
The International Porphyrias Symposium 2023, where experts discuss the latest research into porphyria, will be held later this week and will feature a day dedicated to people with the disease. The symposium, which is designed for clinicians who care for people with porphyria and scientists conducting research related…
An unusual case of acute intermittent porphyria (AIP) that was marked by seizures was described in a recent case report. “This case report is rare and suggests that for patients who experience epileptic seizures coupled with complaints related to the abdomen, the possibility of porphyria should be specially considered…
Different mutations in the HMBS gene — the cause of acute intermittent porphyria (AIP) — are not associated with distinct activity levels of the resulting enzyme but generally reduce its levels by about half, a review study has found. About 90% of AIP patients have reduced activity levels of…
A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a woman, and also detected in her daughter, who showed no symptoms of the disease, according to a study in China. The mutation was found to affect splicing — the process…
Scientists in Switzerland have reported the first documented case of acute intermittent porphyria (AIP) caused by a mosaic mutation — a genetic mutation that affected only a fraction of the patient’s cells. Their findings suggest that new mosaic mutations could potentially be the cause for acute porphyria in other…
People with acute intermittent porphyria (AIP) who have high levels of porphyrin precursors in the urine are more likely to develop primary liver cancer, according to a new study that also found the risks are higher for these AIP patients after age 65. “Individualized PLC [primary liver cancer] risk…
A middle-aged woman with signs of porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with hereditary hemochromatosis, a disorder associated with PCT and marked by iron overload. The case report “illustrates the challenge in diagnosing PCT but also aims to highlight the association between…
Recent Posts
- Teen with AIP develops seizures, rare brain condition in case report
- I am a blessed porphyria warrior who is AIP, or accepting it positively
- Rare clot in AIP case tied to symptoms resembling flare, study finds
- Porphyria seen in familial Mediterranean fever patients: Study
- Liver transplant was ‘Trojan horse’ for baby’s variegate porphyria
- With AIP, even minor decisions can have a big impact on life
- Study explains mystery of metabolite rise in ALAD porphyria
- Basic urine test helps doctors in Sri Lanka diagnose rare porphyria
- Blood stem cell transplant corrects defect underlying EPP in 16-year-old