Patricia Inácio, PhD, science writer —

The U.S. Food and Drug Administration (FDA) has accepted and granted priority review status to Alnylam Pharmaceutical’s new drug application (NDA) seeking approval of givosiran for treating acute hepatic porphyria (AHP). Priority review means the FDA’s decision on whether to approve the therapy is expected within six months instead of the 10…

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…

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…

The antiviral combo therapy of ribavirin and sofosbuvir successfully cleared a patient’s hepatitis C virus and led to remission of his porphyria cutanea tarda (PCT), a case study reports. The study, “Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case…

Nonconvulsive status epilepticus, a condition characterized by confusion, inability to speak, and diminished awareness, has been reported for the first time in a patient with variegate porphyria, according to a case study. The study, “Nonconvulsive status epilepticus secondary to acute Porphyria crisis,” was published in the journal,…

Genetic testing is vital to confirming the diagnosis of acute hepatic porphyria (AHP) in symptomatic patients, and identifying family members who carry mutations but have no symptoms, a study by Mount Sinai researchers — that found family mutations in 50 percent of the asymptomatic people tested — reports. The study, based on…

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, “…

Acute intermittent porphyria (AIP) patients who have recurrent attacks are more likely to be sicker and unemployed, yet face higher medical costs than patients with occasional attacks, researchers in The Netherlands report. Their study, “Medical and financial burden of acute intermittent porphyria,” was published in the Journal of…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AMP-L2.7.D7 (ciclopirox) for treatment of Congenital Erythropoietic Porphyria (also known as Gunther’s disease). AMP-L2.7.D7, developed by Atlas Molecular Pharma, is a pharmacological chaperone — a molecule that binds to uroporphyrinogen III synthase, the…