Project Details

Description

PORPHYRIAS CONSORTIUM OVERALL ABSTRACT We propose to continue and expand the clinical research and training programs of the Porphyrias Consortium (PC), a currently funded Consortium of the Rare Disease Clinical Research Network (RDCRN) that focuses on the inborn errors of heme biosynthesis, the porphyrias. The PC has brought together the complementary strengths of the senior porphyria experts at six regional centers; the American Porphyria Foundation (APF), the only US porphyria patient advocacy and support group; and biopharmaceutical companies interested in improving diagnosis and/or developing novel therapies for these diverse diseases. The Principal Investigator and Administrative Coordiantor will be Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai (ISMMS) and John D. Phillips, PhD, University of Utah (UoU), respectively. The other four Consortium Directors are Karl E. Anderson, MD, University of Texas Medical Branch, Galveston (UTMB), D. Montgomery Bissell, MD, University of California at San Francisco (UCSF); Brendan McGuire, MD, University of Alabama at Birmingham (UAB); and Herbert L. Bonkovsky, MD, Wake Forest University (WF). These porphyria experts form an interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical porphyria research programs, strong track records for training young investigators, and internationally recognized clinical expertise. For the past nine years, they have worked as an effective team to accomplish the original objectives of the PC as documented in the overall progress report. The PC has recruited over 840 patients in
StatusFinished
Effective start/end date30/09/0930/06/22

Funding

  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,353,572.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,028,850.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $148,345.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,248,797.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $927,708.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $38,138.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,028,850.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,357,363.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,028,850.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,250,000.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,028,850.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,250,000.00
  • National Institute of Diabetes and Digestive and Kidney Diseases: $1,404,961.00

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