Porphyria Rare Disease Clinical Research Consortium (RDCRC)

ID Number 08-0959

Principal Investigator(s)
Robert J Desnick

Department(s) or Division(s)
Genetics and Genomic Sciences


We propose to establish a Rare Diseases Clinical Research Consortium (RDCRC) as a part of the Rare Disease Clinical Research Network (RDCRN) that will focus on the inborn errors of heme biosynthesis, the porphyrias. The RDCRC will initially bring together the complementary strengths of senior porphyria experts at five regional centers, the American Porphyria Foundation (APF), the Porphyria Patient Advocacy and Support Group, and biopharmaceutical companies improving and/or developing novel therapies. All five centers are at academic institutions that have NIH-funded CTSAS [University of California, San Francisco (UCSF), University of Alabama, Birmingham (UAB), and the University of Utah (UOU)], or GCRCs [University of Texas Medical Branch, Galveston (UTMB), and the Mount Sinai School of Medicine (MSSM)]. The prophyria experts at these centers comprise an already interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical prophyria research programs, a strong track record for training young investigators, and internationally recognized clinical expertise such that their combined resources and expertise will advance clinical research in the porphyrias through clinical studies and trials. We also propose to train the next generation of clinical and translational prophyria experts, supported in part by this grant and a $1 million matching grant donated by patients and industry to the APF.

Contact Information
Dana O. Doheny, MS, CGC
(212) 659-6779

Recruiting Patients: No