NEW YORK (GenomeWeb) – Alnylam Pharmaceuticals this week announced that it has initiated a prospective observational study of patients with hepatic porphyrias as part of its effort to develop an RNAi-based treatment for the conditions.
Hepatic porphyrias are rare, inherited disorders caused by deficiencies in liver enzymes involved in the biosynthesis of heme, a component of hemoglobin. Alnylam is developing a drug called ALN-AS1 for the treatment of acute intermittent porphyria (AIP), which is caused by loss-of-function mutations in an enzyme in the heme biosynthesis pathway that can lead to the accumulation of toxic heme precursors.
The company aims to file an investigational new drug application for ALN-AS1 late this year or early next year.
Called EXPLORE, the newly announced observational study will follow up to 100 patients with hepatic porphyrias — including AIP, variegate porphyria, and hereditary coproporphyria — who suffer recurrent attacks. Alnylam said it will provide information about the clinical course, management, and disease burden of patients with hepatic porphyrias.