Author Archives: Patricia Inacio PhD

Two Previously Unknown Mutations Identified in Rare Case of Harderoporphyria

Researchers identified two previously unknown mutations in the coproporphyrinogen oxidase (CPOX) gene as the underlying cause of a rare form of hereditary coproporphyria, called harderoporphyria, in a 78-year old man. The study, “Harderoporphyria: Case of lifelong photosensitivity associated with T compound heterozygous coproporphyrinogen oxidase (CPOX) mutations“ was published in the…

Givosiran Cuts Rate of Attacks in Acute Hepatic Porphyria, Trial Shows

Alnylam Pharmaceuticals has announced that its investigational therapy givosiran achieved the primary efficacy and the majority of secondary endpoints in the ENVISION Phase 3 trial with acute hepatic porphyria patients. Treatment with givosiran significantly reduced the annualized rate of porphyria attacks requiring hospitalization, urgent healthcare visits, or hemin administration at home…

Antifungal Ciclopirox May Work As Therapy for CEP, Study Shows

The approved antifungal Ciclopirox is a potential therapy to stabilize and enhance the function of the uroporphyrinogen III synthase, the enzyme whose defective activity causes congenital erythropoietic porphyria (CEP). This is one example of how therapies already approved for one disorder can be repurposed for other diseases. The study, “…