PorphYrias Consortium

The Porphyrias Consortium is a nationwide network of 14 specialized Porphyria Centers of Expertise across the United States. Each center is staffed by leading porphyria physicians, researchers, and clinical research coordinators dedicated to providing comprehensive care for all types of porphyria. 

This collaborative consortium plays a critical role in advancing the diagnosis, treatment, and prevention of porphyria-related illness and disability. Through shared research, clinical expertise, and a commitment to innovation, the Porphyrias Consortium is accelerating progress in care and improving outcomes for people living with these rare disorders.

The Porphyrias Consortium (PC) started in 2008 as a funded research group 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 received funding under grant number U54DK083909 as a collaboration between NCATS and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The PC transitioned under the auspices of APEX in 2025.

Porphyria Centers of Expertise

Featured Publications

Current Porphyrias consortium Studies

Featured
7201: Longitudinal Study of the Porphyrias

The purpose of this long-term follow-up study is to collect a large group of patients with the different types of porphyria and to provide a better understanding of the natural history of these disorders. The hope is that this information will help in developing new forms of treatment.

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7208: Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria

The purpose of this study is to collect information on acute porphyria attacks that may have been caused by a medication. Individuals who have tested positive for an acute porphyria, or have been told by a doctor that they may have the disease may join this study. We are particularly interested in the following: (1) Attacks that appeared to be due to a specific medication; (2) Use of a medication that is considered risky in porphyria but caused no problems; and (3) Use of medications for which the safety profile in porphyria is unknown.

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7213: Identification of Acute Intermittent Porphyria Modifying Genes

This study proposes to identify the predisposing/protective modifying genes that underlie the acute attacks in symptomatic patients with Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme biosynthesis.

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