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 porphyria experts at these centers comprise an already interactive and interdisciplinary team of translational and clinical investigators who have active basic and clinical porphyria research programs, a strong track record for training young investigators, and internationally recognized clinical expertise. Their combined resources and expertise will advance clinical research in the porphyrias through the clinical studies and trials described in this application. We also propose to train the next generation of clinical and translational porphyria experts, supported in part by this grant and a $1 million matching grant donated by patients and industry to the APF. The Principal and Co-Principal Investigators will be Robert J. Desnick, PhD, MD, Professor and Chair of Genetics and Genomic Sciences at MSSM and Karl E. Anderson, MD, Professor of Preventive Medicine and Community Health at UTMB, respectively. The three other Con- sortium sites will be directed by D. Montgomery Bissell, MD, Professor of Medicine at UCSF, Joseph R. Bloomer, MD, Professor of Medicine at UAB, and James P. Kushner, MD, Professor of Medicine at UoU. Additional affiliate centers will be included over time as funding permits, including support from other grants and philanthropic sources.
The proposed Porphyria RDCRC will bring together senior porphyria experts at five academic institutions;the American Porphyria Foundation (APF), the only patient education, support, and advocacy organization in the United States;and Industry to carry out clinical studies and clinical trials to accelerate the development of improved diagnosis and treatment for the patients with these rare diseases. In addition, the proposed RDCRC will provide the training and career development of the next generation of porphyria clinical investigators who will insure future advances for patients with these diseases.
|Yien, Yvette Y; Ducamp, Sarah; van der Vorm, Lisa N et al. (2017) Mutation in human CLPX elevates levels of ?-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. Proc Natl Acad Sci U S A 114:E8045-E8052|
|Balwani, Manisha; Wang, Bruce; Anderson, Karl E et al. (2017) Acute hepatic porphyrias: Recommendations for evaluation and long-term management. Hepatology 66:1314-1322|
|Singal, Ashwani K; Venkata, Krishna V R; Jampana, Sarat et al. (2017) Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. Am J Med Sci 353:523-528|
|Lane, Ashley M; McKay, Jerome T; Bonkovsky, Herbert L (2016) Advances in the management of erythropoietic protoporphyria - role of afamelanotide. Appl Clin Genet 9:179-189|
|Farrell, Colin P; Overbey, Jessica R; Naik, Hetanshi et al. (2016) The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PLoS One 11:e0163322|
|Naik, Hetanshi; Stoecker, Mikayla; Sanderson, Saskia C et al. (2016) Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. Mol Genet Metab 119:278-283|
|Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66|
|Chen, Brenden; Solis-Villa, Constanza; Hakenberg, Jörg et al. (2016) Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. Hum Mutat 37:1215-1222|
|Balwani, Manisha; Singh, Preeti; Seth, Anju et al. (2016) Acute Intermittent Porphyria in children: A case report and review of the literature. Mol Genet Metab 119:295-299|
|Piel 3rd, Robert B; Shiferaw, Mesafint T; Vashisht, Ajay A et al. (2016) A Novel Role for Progesterone Receptor Membrane Component 1 (PGRMC1): A Partner and Regulator of Ferrochelatase. Biochemistry 55:5204-17|
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