News

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…

Certain triggers of acute intermittent porphyria (AIP) may also affect the function of the brain’s mitochondria — the bean-shaped structures that produce energy inside cells — according to a mouse study conducted by researchers in Argentina. While it is unknown whether this holds true in humans, understanding “the mechanisms…

Treatment with Givlaari (givosiran) was effective for resolving symptoms of hereditary coproporphyria (HCP) in a 47-year-old Japanese woman, according to a recent report. Her symptoms remained well-controlled for more than two years after stopping Glivlaari, according to the report, “A Case of Hereditary Coproporphyria in…

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…

A new mutation in the HMBS gene was identified as the cause of acute intermittent porphyria (AIP) in a 22-year-old woman in China, according to a recent study. The mutation was found to affect splicing — the process that allows the coding regions of a gene to be joined…

People with acute intermittent porphyria (AIP) have high levels of three markers of kidney and liver injury in their blood, suggesting these could potentially serve as early biomarkers to mitigate damage, a recent study reports. Levels of these markers — KIM-1, FABP-1, and alpha-GST — were found to be…

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…

Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival. That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of…

Researchers in Italy hope to help clinicians more quickly recognize acute intermittent porphyria (AIP) in their case report of a young woman who saw her condition severely worsen after years of delayed diagnosis. The woman had a history of psychiatric issues and abdominal pain, and then developed neurological symptoms,…