DEVELOPING A NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM This application addresses one broad Challenge Area, (07) Enhancing Clinical Trials (07-OD(ORDR)-102: Rare Disease Genetic Patient Registry. By most epidemiological studies, primary mitochondrial disorders, defined as inherited defects of the mitochondrial respiratory chain (RC), are rare diseases (<200,000 affected individuals in the US) due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Mitochondrial diseases are among the most clinically heterogeneous conditions because mitochondria are ubiquitous organelles and the expression of disorders due to mtDNA mutations depends on the proportion and tissue distribution of mutated mtDNAs. Thus, mitochondrial diseases are baffling to general practitioners, scary to patients and families, and generally misunderstood despite the organizational and teaching efforts of the patients advocacy group, the United Mitochondrial Disease Foundation (UMDF). Together with their rarity, the clinical and genetic heterogeneity of mitochondrial diseases has hindered natural history studies and rigorous clinical trials. In no other area of medicine is the need for a North American patient registry more critical. This application aims at establishing the infrastructure needed to launch a mitochondrial disease patient registry, biorepository, and a North American Mitochondrial Disease Consortium (NAMDC) with the support of UMDF. The NAMDC will feature advanced data management systems and statistical design capabilities provided by the Statistical Analysis Center (SAC) in the Department of Biostatistics at Columbia University. This structure will be the indispensable basis for future collaborative studies of epidemiology, natural history, therapeutic trials, as well as in-depth research on pathogenesis. As research on the mitochondrial role in human diseases progresses at a very rapid pace, the time is ripe for the establishment of a North American Mitochondrial Disease Consortium and patient registry, which will provide infrastructure for translational research and prepare the ground for rigorous natural history studies and therapeutic trials that are sorely needed for these generally devastating disorders.
As research on the mitochondrial role in human diseases progresses at a very rapid pace, the time is ripe for the establishment of a North American Mitochondrial Disease Consortium and patient registry, which will provide infrastructure for translational research and prepare the ground for rigorous natural history studies and therapeutic trials that are sorely needed for these generally devastating disorders.
| Quinzii, Catarina M; Garone, Caterina; Emmanuele, Valentina et al. (2013) Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice. FASEB J 27:612-21 |
| Hirano, Michio; Garone, Caterina; Quinzii, Catarina M (2012) CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 1820:625-31 |
| Martí, Ramon; López, Luis C; Hirano, Michio (2012) Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 837:121-33 |
| Emmanuele, Valentina; Lopez, Luis C; Berardo, Andres et al. (2012) Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 69:978-83 |
| Ash, Daniel B; Papadimitriou, Dimitra; Hays, Arthur P et al. (2012) A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. Arch Neurol 69:1190-2 |
| Martí, Ramon; Dorado, Beatriz; Hirano, Michio (2012) Measurement of mitochondrial dNTP pools. Methods Mol Biol 837:135-48 |
| Rahman, Shamima; Clarke, Catherine F; Hirano, Michio (2012) 176th ENMC International Workshop: diagnosis and treatment of coenzyme Q?? deficiency. Neuromuscul Disord 22:76-86 |
| Quinzii, Catarina M; Hirano, Michio (2011) Primary and secondary CoQ(10) deficiencies in humans. Biofactors 37:361-5 |
| Dorado, Beatriz; Area, Estela; Akman, Hasan O et al. (2011) Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. Hum Mol Genet 20:155-64 |
| Garone, Caterina; Tadesse, Saba; Hirano, Michio (2011) Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 134:3326-32 |
Showing the most recent 10 out of 19 publications
