Suppressing Wnt/beta-catenin — a signaling pathway that plays a key role in liver health — significantly reduced liver damage and the porphyrin deposits whose accumulation cause porphyria in a mouse model of the disease, a study shows. Notably, these beneficial effects were associated with lower levels of enzymes involved in…
Six months of treatment with Givlaari (givosiran) effectively reduced pain during and between porphyria attacks in people with acute hepatic porphyria (AHP), also known as acute porphyria, according to a post-hoc analysis of data from the Phase 3 ENVISION trial. Givlaari also was found to lower the use of…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Treatment with Panhematin (hemin for injection) is associated with a 78% lower average annual total cost of care compared with Givlaari (givosiran) in people with acute intermittent porphyria (AIP) in the U.S., a study reports. Panhematin-associated cost savings were greatest for AIP patients with one acute…
Excessive levels of estrogen associated with hormone therapy changes and risk factors such as smoking may lead to porphyria cutanea tarda (PCT) in transgender women, a case study reported. The findings add to the increasing body of evidence highlighting the higher risk of skin problems in transgender women on long-term…
The U.S. Food and Drug Administration (FDA) has approved Alnylam Pharmaceuticals’ investigational candidate givosiran, which will be marketed as Givlaari, for the treatment of adults with acute hepatic porphyria (AHP). The approval comes less than four months after the FDA accepted the therapy’s new drug application (NDA) for that…
The ClpX protein recently has been studied for its role in causing erythropoietic protoporphyria (EPP). In a review study, researchers explored this connection and recommended further genetic studies. The study, “The role of ClpX in erythropoietic protoporphyria,” was published in the journal Hematology, Transfusion and Cell Therapy.
Alnylam Pharmaceuticals, after consulting with the U.S. Food and Drug Administration, plans to pursue full approval of its lead therapy candidate, givosiran, for the treatment of acute hepatic porphyria (AHP), rather than accelerated approval. The full approval will be based on the complete results of the ongoing…
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