Porphyrias Consortium (PC)

The porphyrias are a group of rare, inherited disorders, each caused by a deficiency with one of eight enzymes necessary to produce heme, an important component of hemoglobin and other proteins. The porphyrias are classified as either acute hepatic (liver) or cutaneous (skin); the former is characterized generally by acute attacks of severe abdominal pain accompanied by nausea, vomiting and other symptoms, whereas the latter mainly includes blistering or burning in response to sun exposure. The rarity of these diseases has limited understanding of how they naturally progress and what other factors influence symptoms. The Porphyrias Consortium (PC) brings together experts at six main academic institutions, seven satellite sites, the American Porphyria Foundation, and biopharmaceutical companies interested in improving diagnosis and treatment for these diseases. The PC aims to continue studying the characteristics and genetics of the porphyrias; promote development of new biomarkers to track the progression of these diseases; develop and test new treatments; and train the next generation of porphyria clinicians and researchers.

The Porphyrias Consortium (PC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). PC is funded under grant number U54DK083909 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). All RDCRN consortia are supported by the network’s Data Management and Coordinating Center (DMCC) (U2CTR002818). Funding support for the DMCC is provided by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).