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.
|Bissell, D Montgomery; Lai, Jennifer C; Meister, Raymond K et al. (2015) Role of delta-aminolevulinic acid in the symptoms of acute porphyria. Am J Med 128:313-7|
|Singal, Ashwani K; Parker, Charles; Bowden, Christine et al. (2014) Liver transplantation in the management of porphyria. Hepatology 60:1082-9|
|Yasuda, Makiko; Gan, Lin; Chen, Brenden et al. (2014) RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. Proc Natl Acad Sci U S A 111:7777-82|
|Yien, Yvette Y; Robledo, Raymond F; Schultz, Iman J et al. (2014) TMEM14C is required for erythroid mitochondrial heme metabolism. J Clin Invest 124:4294-304|
|Bishop, David F; Tchaikovskii, Vassili; Nazarenko, Irina et al. (2013) Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. Mol Med 19:18-25|
|Wang, Lejin; Wang, Lejing; He, Fei et al. (2012) ABCB6 mutations cause ocular coloboma. Am J Hum Genet 90:40-8|
|Phillips, John D; Kushner, James P; Bergonia, Hector A et al. (2011) Uroporphyria in the Cyp1a2-/- mouse. Blood Cells Mol Dis 47:249-54|
|Hasanoglu, Alev; Balwani, Manisha; Kasapkara, Cigdem S et al. (2011) Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. J Inherit Metab Dis 34:225-31|
|Machaczka, Maciej; Klimkowska, Monika; Regenthal, Sofie et al. (2011) Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis 34:233-5|
|Balwani, Manisha; Grace, Marie E; Desnick, Robert J (2011) Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. J Inherit Metab Dis 34:789-93|
Showing the most recent 10 out of 11 publications