المصدر: A Long-Term Follow-up Study to Evaluate Safety and Efficacy of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Adults With Late-Onset OTC Deficiency

المصدر: Mucopolysaccharidosis Patients in France in the Era of Specific Therapeutics

المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

المصدر: LeukoSEQ: Whole Genome Sequencing As a First-Line Diagnostic Tool for Leukodystrophies
Costello DJ, Eichler AF, Eichler FS. Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R. The burden of inherited leukodystrophies in children. Neurology. 2010 Aug 24;75(8):718-25. doi: 10.1212/WNL.0b013e3181eee46b. Epub 2010 Jul 21.
Vanderver A, Hussey H, Schmidt JL, Pastor W, Hoffman HJ. Relative incidence of inherited white matter disorders in childhood to acquired pediatric demyelinating disorders. Semin Pediatr Neurol. 2012 Dec;19(4):219-23. doi: 10.1016/j.spen.2012.10.001.
Richards J, Korgenski EK, Srivastava R, Bonkowsky JL. Costs of the diagnostic odyssey in children with inherited leukodystrophies. Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Richards J, Korgenski EK, Taft RJ, Vanderver A, Bonkowsky JL. Targeted leukodystrophy diagnosis based on charges and yields for testing. Am J Med Genet A. 2015 Nov;167A(11):2541-3. doi: 10.1002/ajmg.a.37215. Epub 2015 Jul 16.
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet. 2011 Sep 27;12(11):745-55. doi: 10.1038/nrg3031.
Srivastava S, Cohen JS, Vernon H, Baranano K, McClellan R, Jamal L, Naidu S, Fatemi A. Clinical whole exome sequencing in child neurology practice. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30.
Vanderver A, Simons C, Helman G, Crawford J, Wolf NI, Bernard G, Pizzino A, Schmidt JL, Takanohashi A, Miller D, Khouzam A, Rajan V, Ramos E, Chowdhury S, Hambuch T, Ru K, Baillie GJ, Grimmond SM, Caldovic L, Devaney J, Bloom M, Evans SH, Murphy JLP, McNeill N, Fogel BL; Leukodystrophy Study Group; Schiffmann R, van der Knaap MS, Taft RJ. Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016 Jun;79(6):1031-1037. doi: 10.1002/ana.24650. Epub 2016 May 9.
Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology. 2009 Feb 24;72(8):750-9. doi: 10.1212/01.wnl.0000343049.00540.c8.
Vanderver A, Bernard G, Helman G, Sherbini O, Boeck R, Cohn J, Collins A, Demarest S, Dobbins K, Emrick L, Fraser JL, Masser-Frye D, Hayward J, Karmarkar S, Keller S, Mirrop S, Mitchell W, Pathak S, Sherr E, van Haren K, Waters E, Wilson JL, Zhorne L, Schiffmann R, van der Knaap MS, Pizzino A, Dubbs H, Shults J, Simons C, Taft RJ; LeukoSEQ Workgroup. Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders. Ann Neurol. 2020 Aug;88(2):264-273. doi: 10.1002/ana.25757. Epub 2020 Jun 9.

المصدر: A Phase I/II First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of a Single Intravenous (IV) Administration of ECUR-506 in Males Less Than 9 Months of Age With Genetically Confirmed Neonatal Onset Ornithine Transcarbamylase (OTC) Deficiency

المصدر: A Phase 3, Randomized, Double-blind, Placebo-controlled Study of Adeno-associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Human Ornithine Transcarbamylase (OTC) in Patients With Late-onset OTC Deficiency

المصدر: Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
Ferriero R, Manco G, Lamantea E, Nusco E, Ferrante MI, Sordino P, Stacpoole PW, Lee B, Zeviani M, Brunetti-Pierri N. Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. Sci Transl Med. 2013 Mar 6;5(175):175ra31. doi: 10.1126/scitranslmed.3004986.
Stacpoole PW. The dichloroacetate dilemma: environmental hazard versus therapeutic goldmine--both or neither? Environ Health Perspect. 2011 Feb;119(2):155-8. doi: 10.1289/ehp.1002554. Epub 2010 Oct 4.
Evans OB, Stacpoole PW. Prolonged hypolactatemia and increased total pyruvate dehydrogenase activity by dichloroacetate. Biochem Pharmacol. 1982 Apr 1;31(7):1295-300. doi: 10.1016/0006-2952(82)90019-3.
Han Z, Berendzen K, Zhong L, Surolia I, Chouthai N, Zhao W, Maina N, Srivastava A, Stacpoole PW. A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate. Mol Genet Metab. 2008 Apr;93(4):381-7. doi: 10.1016/j.ymgme.2007.10.131. Epub 2008 Feb 21.
Ishida N, Kitagawa M, Hatakeyama S, Nakayama K. Phosphorylation at serine 10, a major phosphorylation site of p27(Kip1), increases its protein stability. J Biol Chem. 2000 Aug 18;275(33):25146-54. doi: 10.1074/jbc.M001144200.
Lu KP, Liou YC, Zhou XZ. Pinning down proline-directed phosphorylation signaling. Trends Cell Biol. 2002 Apr;12(4):164-72. doi: 10.1016/s0962-8924(02)02253-5.
Virshup DM, Eide EJ, Forger DB, Gallego M, Harnish EV. Reversible protein phosphorylation regulates circadian rhythms. Cold Spring Harb Symp Quant Biol. 2007;72:413-20. doi: 10.1101/sqb.2007.72.048.
Moretto-Zita M, Jin H, Shen Z, Zhao T, Briggs SP, Xu Y. Phosphorylation stabilizes Nanog by promoting its interaction with Pin1. Proc Natl Acad Sci U S A. 2010 Jul 27;107(30):13312-7. doi: 10.1073/pnas.1005847107. Epub 2010 Jul 9.
Thomas LW, Lam C, Edwards SW. Mcl-1; the molecular regulation of protein function. FEBS Lett. 2010 Jul 16;584(14):2981-9. doi: 10.1016/j.febslet.2010.05.061. Epub 2010 Jun 11.
Henderson GH, Whalen PO, Darr RA, Curry SH, Derendorf H, Baumgartner TG, Stacpoole PW: Development of an oral drug formulation for dichloroacetate and thiamine. Drug Devel Indust Pharm, 20:2425-2437, 1994.
Chu PI, Curry SH, Baumgartner TG, Henderson GN, Stacpoole PW. Preparation and stability of intravenous solutions of sodium dichloroacetate (DCA). J Parenter Sci Technol. 1992 Jan-Feb;46(1):16-8.
Berendzen K, Theriaque DW, Shuster J, Stacpoole PW. Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. Mitochondrion. 2006 Jun;6(3):126-35. doi: 10.1016/j.mito.2006.04.001. Epub 2006 May 3.
Stacpoole PW, Kerr DS, Barnes C, Bunch ST, Carney PR, Fennell EM, Felitsyn NM, Gilmore RL, Greer M, Henderson GN, Hutson AD, Neiberger RE, O'Brien RG, Perkins LA, Quisling RG, Shroads AL, Shuster JJ, Silverstein JH, Theriaque DW, Valenstein E. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. 2006 May;117(5):1519-31. doi: 10.1542/peds.2005-1226.
Stacpoole PW, Gilbert LR, Neiberger RE, Carney PR, Valenstein E, Theriaque DW, Shuster JJ. Evaluation of long-term treatment of children with congenital lactic acidosis with dichloroacetate. Pediatrics. 2008 May;121(5):e1223-8. doi: 10.1542/peds.2007-2062. Epub 2008 Apr 14.
Abdelmalak M, Lew A, Ramezani R, Shroads AL, Coats BS, Langaee T, Shankar MN, Neiberger RE, Subramony SH, Stacpoole PW. Long-term safety of dichloroacetate in congenital lactic acidosis. Mol Genet Metab. 2013 Jun;109(2):139-43. doi: 10.1016/j.ymgme.2013.03.019. Epub 2013 Apr 6.
Robinson BH. Lactic academia (disorders of pyruvate carboxylase, pyruvate dehydrogenase). In: Scriver CR, Beaudet AL, Sly WS, Valle D. (Eds.). The metabolic and molecular bases of inherited disease, seventh ed. McGraw-Hill, New York, pp. 1479-1499, 1995.
Ozlu N, Akten B, Timm W, Haseley N, Steen H, Steen JAJ. Phosphoproteomics. Wiley Interdiscip Rev Syst Biol Med. 2010 May-Jun;2(3):255-276. doi: 10.1002/wsbm.41.
U.S. Department of Health and Human Services FDA Center for Drug Evaluation and Research; U.S. Department of Health and Human Services FDA Center for Biologics Evaluation and Research; U.S. Department of Health and Human Services FDA Center for Devices and Radiological Health. Guidance for industry: patient-reported outcome measures: use in medical product development to support labeling claims: draft guidance. Health Qual Life Outcomes. 2006 Oct 11;4:79. doi: 10.1186/1477-7525-4-79.
Papadopoulos EJ, Patrick DL, Tassinari MS, Mulberg AE, Epps C, Pariser AR, Burke LB. Clinical outcome assessments for clinical trials in children. In Pediatric Drug Development: Concepts and Applications (Eds. AE Mulberg, D Murphy, J Dunne and LL Mathis. John Wiley & Sons, Ltd, Hoboken, NJ, pp. 539-548.
McLeod LD, Coon CD, Martin SA, Fehnel SE, Hays RD. Interpreting patient-reported outcome results: US FDA guidance and emerging methods. Expert Rev Pharmacoecon Outcomes Res. 2011 Apr;11(2):163-9. doi: 10.1586/erp.11.12.
Shroads AL, Langaee T, Coats BS, Kurtz TL, Bullock JR, Weithorn D, Gong Y, Wagner DA, Ostrov DA, Johnson JA, Stacpoole PW. Human polymorphisms in the glutathione transferase zeta 1/maleylacetoacetate isomerase gene influence the toxicokinetics of dichloroacetate. J Clin Pharmacol. 2012 Jun;52(6):837-49. doi: 10.1177/0091270011405664. Epub 2011 Jun 3.
Dunbar EM, Coats BS, Shroads AL, Langaee T, Lew A, Forder JR, Shuster JJ, Wagner DA, Stacpoole PW. Phase 1 trial of dichloroacetate (DCA) in adults with recurrent malignant brain tumors. Invest New Drugs. 2014 Jun;32(3):452-64. doi: 10.1007/s10637-013-0047-4. Epub 2013 Dec 3.
Shroads AL, Coats BS, McDonough CW, Langaee T, Stacpoole PW. Haplotype variations in glutathione transferase zeta 1 influence the kinetics and dynamics of chronic dichloroacetate in children. J Clin Pharmacol. 2015 Jan;55(1):50-5. doi: 10.1002/jcph.371. Epub 2014 Aug 6.
Stacpoole PW, Wright EC, Baumgartner TG, Bersin RM, Buchalter S, Curry SH, Duncan CA, Harman EM, Henderson GN, Jenkinson S, et al. A controlled clinical trial of dichloroacetate for treatment of lactic acidosis in adults. The Dichloroacetate-Lactic Acidosis Study Group. N Engl J Med. 1992 Nov 26;327(22):1564-9. doi: 10.1056/NEJM199211263272204.
Duncan GE, Perkins LA, Theriaque DW, Neiberger RE, Stacpoole PW. Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism. J Clin Endocrinol Metab. 2004 Apr;89(4):1733-8. doi: 10.1210/jc.2003-031684.
Stacpoole PW, deGrauw TJ, Feigenbaum AS, Hoppel C, Kerr DS, McCandless SE, Miles MV, Robinson BH, Tang PH. Design and implementation of the first randomized controlled trial of coenzyme CoQ(1)(0) in children with primary mitochondrial diseases. Mitochondrion. 2012 Nov;12(6):623-9. doi: 10.1016/j.mito.2012.09.005. Epub 2012 Sep 25. Erratum In: Mitochondrion. 2013 Nov;13(6):953.
Felitsyn NM, Henderson GN, James MO, Stacpoole PW. Liquid chromatography-tandem mass spectrometry method for the simultaneous determination of delta-ALA, tyrosine and creatinine in biological fluids. Clin Chim Acta. 2004 Dec;350(1-2):219-30. doi: 10.1016/j.cccn.2004.08.009.
Weber TA, Antognetti MR, Stacpoole PW. Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. J Pediatr. 2001 Mar;138(3):390-5. doi: 10.1067/mpd.2001.111817.
Shroads AL, Henderson GN, Cheung J, James MO, Stacpoole PW. Unified gas chromatographic-mass spectrometric method for quantitating tyrosine metabolites in urine and plasma. J Chromatogr B Analyt Technol Biomed Life Sci. 2004 Sep 5;808(2):153-61. doi: 10.1016/j.jchromb.2004.05.005.
Yan Z, Henderson GN, James MO, Stacpoole PW. Determination of dichloroacetate and its metabolites in human plasma by gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl. 1997 Dec 5;703(1-2):75-84. doi: 10.1016/s0378-4347(97)00404-0.
Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome. Mol Genet Metab. 2012 Nov;107(3):383-8. doi: 10.1016/j.ymgme.2012.09.007. Epub 2012 Sep 10.
Shroads AL, Guo X, Dixit V, Liu HP, James MO, Stacpoole PW. Age-dependent kinetics and metabolism of dichloroacetate: possible relevance to toxicity. J Pharmacol Exp Ther. 2008 Mar;324(3):1163-71. doi: 10.1124/jpet.107.134593. Epub 2007 Dec 20.
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA. The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. J Inherit Metab Dis. 2015 May;38(3):391-403. doi: 10.1007/s10545-014-9787-3. Epub 2014 Dec 20.
Lehman, EL. Nonparametrics: Statistical methods Based on Ranks. (Page 173). Holden-Day, San Francisco, 1975.

المؤلفون: Allen, Lindsay H.^1,2, Fenech, Michael^3,4, LeVatte, Marcia A.⁵, West Jr., Keith P.⁶ kwest1@jhu.edu, Wishart, David S.^5,7,8,9

المصدر: Annual Review of Nutrition. 2024, Vol. 44, p125-153. 22p.

مصطلحات موضوعية: *PREVENTION of malnutrition, *DEFICIENCY disease prevention, *FOOD consumption, *INTERPROFESSIONAL relations, *MICRONUTRIENTS, *FUNCTIONAL foods, *PROTEOMICS, *NUTRITIONAL status, *PUBLIC health, *METABOLOMICS, *BIOMARKERS

المؤلفون: Dembedza, Mavis P¹ (AUTHOR), Chopera, Prosper¹ (AUTHOR) pchopera@gmail.com, Matsungo, Tonderayi M¹ (AUTHOR)

المصدر: South African Journal of Clinical Nutrition. Jun2024, Vol. 37 Issue 2, p69-76. 8p.

مصطلحات موضوعية: *DEFICIENCY disease prevention, *RISK assessment, *CHILDREN'S health, *FOOD consumption, *ZINC, *DISEASE prevalence, *DEFICIENCY diseases, *GROWTH disorders, *PUBLIC health, *DISEASE risk factors, *DISEASE complications, *CHILDREN

مصطلحات جغرافية: SUB-Saharan Africa

المؤلفون: National Institutes of Health (NIH), National Institute of Neurological Disorders and Stroke (NINDS), National Center for Advancing Translational Sciences (NCATS), Biogen, Eli Lilly and Company, Myrtelle Inc., Orchard Therapeutics Ltd., Passage Bio, Inc., Synaptix Biotherapeutics Ltd., Takeda, Boehringer Ingelheim, Ionis Pharmaceuticals, Inc., Sanofi Winthrop Industrie, Sana Biotechnology, Yaya Foundation for 4H Leukodystrophy, University of Pennsylvania, United MSD Foundation, Foundation to Fight H-ABC, Calliope Joy Foundation, Don't Forget Me Foundation

المساهمون: Adeline Vanderver, MD, Program Director, Leukodystrophy Center

المصدر: The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gartner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC. Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. J Inherit Metab Dis. 2020 Nov;43(6):1298-1309. doi: 10.1002/jimd.12298. Epub 2020 Aug 20.

المؤلفون: Rare Diseases Clinical Research Network, National Institute of Neurological Disorders and Stroke (NINDS)

المساهمون: Jirair Krikor Bedoyan, Associate Professor

المصدر: Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413)
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.
Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 Mar;120(3):213-222. doi: 10.1016/j.ymgme.2016.11.005. Epub 2016 Nov 12.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. 2017 Apr;120(4):342-349. doi: 10.1016/j.ymgme.2017.02.002. Epub 2017 Feb 2.
Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR 2nd, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18;10:79. doi: 10.1186/s13023-015-0290-1.
Deeb KK, Bedoyan JK, Wang R, Sremba L, Schroeder MC, Grahame GJ, Boyer M, McCandless SE, Kerr DS, Zhang S. Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. Mol Genet Metab Rep. 2014 Aug 28;1:362-367. doi: 10.1016/j.ymgmr.2014.08.001. eCollection 2014.
Shin HK, Grahame G, McCandless SE, Kerr DS, Bedoyan JK. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. Mol Genet Metab. 2017 Nov;122(3):61-66. doi: 10.1016/j.ymgme.2017.09.001. Epub 2017 Sep 8.
Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep. 2019 Jun 17;48(1):26-35. doi: 10.1002/jmd2.12054. eCollection 2019 Jul.

المؤلفون: Ultragenyx Pharmaceutical Inc

المساهمون: Jirair Krikor Bedoyan, Associate Professor of Pediatrics

المصدر: An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin As Treatment for Patients with Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

المؤلفون: Children's National Research Institute

المساهمون: Lindsay Burrage, Principal Investigator

المصدر: Hepatic Histopathology in Urea Cycle Disorders

المؤلفون: Centre Hospitalier Régional de la Citadelle, University of Liege, Sanofi, Orchard Therapeutics, Takeda, Zentech-Lacar Company, Leon Fredericq Foundation

المساهمون: Laurent Servais, Professor

المصدر: Universal Genomic Newborn Screening in the Wallonia-Brussels Federation: Baby Detect

المؤلفون: University of North Carolina, Chapel Hill, The John Merck Fund, Duke University, Wake Forest University, North Carolina Department of Health and Human Services, National Center for Advancing Translational Sciences (NCATS), Cure SMA, The National Fragile X Foundation, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Asuragen, Inc., Sarepta Therapeutics, Inc., Muscular Dystrophy Association, The Leona M. and Harry B. Helmsley Charitable Trust, Juvenile Diabetes Research Foundation, Janssen Pharmaceuticals, GeneDx, Illumina, Inc.

المصدر: Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns
Finkel, Mercuri, Darras, Kuntz, Kirschner et al, 2017
Birnkrant, et al, 2018
Winarni, Schneider, Borodyanskara, & Hagerman, 2012
Bailey, Raspa, Bishop & Holiday, 2009
Gehtland LM, Paquin RS, Andrews SM, Lee AM, Gwaltney A, Duparc M, Pfaff ER, Bailey DB Jr. Using a Patient Portal to Increase Enrollment in a Newborn Screening Research Study: Observational Study. JMIR Pediatr Parent. 2022 Feb 10;5(1):e30941. doi: 10.2196/30941.
Bailey DB Jr, Gehtland LM, Lewis MA, Peay H, Raspa M, Shone SM, Taylor JL, Wheeler AC, Cotten M, King NMP, Powell CM, Biesecker B, Bishop CE, Boyea BL, Duparc M, Harper BA, Kemper AR, Lee SN, Moultrie R, Okoniewski KC, Paquin RS, Pettit D, Porter KA, Zimmerman SJ. Early Check: translational science at the intersection of public health and newborn screening. BMC Pediatr. 2019 Jul 17;19(1):238. doi: 10.1186/s12887-019-1606-4.

المصدر: A Phase 1b Randomized, Double Blinded, Placebo Controlled, Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of Single Doses of ARCT-810 in Clinically Stable Patients With Ornithine Transcarbamylase Deficiency

المصدر: Phase 2, Randomized, Double-Blind, Placebo-Controlled, Nested Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ARCT-810 in Adolescent and Adult Participants With Ornithine Transcarbamylase Deficiency

المصدر: A Phase 2a, Open-label, Multiple Ascending Dose Study to Evaluate the Pharmacodynamics and Safety of ARCT-810 in Adolescent and Adult Participants With Ornithine Transcarbamylase Deficiency

المؤلفون: Children's National Research Institute, Seattle Children's Hospital, Children's Hospital Colorado, Children's Hospital of Philadelphia

المساهمون: Lindsay Burrage, Principal Investigator

المصدر: Noninvasive Biomarkers of Hepatic Fibrosis in Urea Cycle Disorders

المساهمون: Deepa Soundara Rajan, Associate Professor

المصدر: Longitudinal Study of Neurodegenerative Disorders

المؤلفون: Paditz, Ekkehart

المصدر: Children; Oct2024, Vol. 11 Issue 10, p1197, 30p

مصطلحات موضوعية: PINEAL gland physiology, DEFICIENCY disease prevention, BREASTFEEDING, INFANT development, MELATONIN, SYSTEMATIC reviews, MEDLINE, INFANT nutrition, CIRCADIAN rhythms, NORADRENALINE, ONLINE information services, SLEEP disorders, INFANTILE colic, CHILDREN