Search Results - "Cox, Gerald"

Impact of coffee on liver diseases: a systematic review by Saab, Sammy, Mallam, Divya, Cox II, Gerald A., Tong, Myron J.

“…Coffee is one of the most commonly consumed beverages in the world. Its health benefits including improved overall survival have been demonstrated in a variety…”
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Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial by Hastings, Caroline, Liu, Benny, Hurst, Bryan, Cox, Gerald F., Hrynkow, Sharon

“…Niemann-Pick Disease Type C1 (NPC1) is a disorder of intracellular cholesterol and lipid trafficking that leads to the accumulation of cholesterol and lipids…”
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The art and science of choosing efficacy endpoints for rare disease clinical trials by Cox, Gerald F.

“…An important challenge in rare disease clinical trials is to demonstrate a clinically meaningful and statistically significant response to treatment. Selecting…”
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Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry by Lipshultz, Steven E, Prof, Orav, E John, Prof, Wilkinson, James D, Prof, Towbin, Jeffrey A, Prof, Messere, Jane E, RN, Lowe, April M, MS, Sleeper, Lynn A, ScD, Cox, Gerald F, MD, Hsu, Daphne T, Prof, Canter, Charles E, Prof, Hunter, Juanita A, MD, Colan, Steven D, Prof

“…Summary Background Treatment of children with hypertrophic cardiomyopathy might be improved if the risk of death or heart transplantation could be predicted by…”
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Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: A study from the Pediatric Cardiomyopathy Registry by Wilkinson, James D., MD, MPH, Lowe, April M., MS, Salbert, Bonnie A., DO, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Connuck, David M., MD, Messere, Jane E., RN, Lipshultz, Steven E., MD

“…Background Studies of cardiomyopathy in children with Noonan syndrome (NS) have been primarily small case series or cross-sectional studies with small or no…”
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Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I by Clarke, Lorne A, Wraith, J. Edmond, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Sidman, Marisa, Kakkis, Emil D, Cox, Gerald F

“…Our goal was to evaluate the long-term safety and efficacy of recombinant human alpha-l-iduronidase (laronidase) in patients with mucopolysaccharidosis I. All…”
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Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses by Kissell, Julie, Rochmann, Camille, Minini, Pascal, Eichler, Florian, Stephen, Christopher D., Lau, Heather, Toro, Camilo, Johnston, Jean M., Krupnick, Robert, Hamed, Alaa, Cox, Gerald F.

“…The late-onset GM2 gangliosidoses, comprising late-onset Tay–Sachs and Sandhoff diseases, are rare, slowly progressive, neurogenetic disorders primarily…”
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Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency by Wasserstein, Melissa P., Jones, Simon A., Soran, Handrean, Diaz, George A., Lippa, Natalie, Thurberg, Beth L., Culm-Merdek, Kerry, Shamiyeh, Elias, Inguilizian, Haig, Cox, Gerald F., Puga, Ana Cristina

“…Olipudase alfa, a recombinant human acid sphingomyelinase (rhASM), is an investigational enzyme replacement therapy (ERT) for patients with ASM deficiency…”
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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases by Cassiman, David, Packman, Seymour, Bembi, Bruno, Turkia, Hadhami Ben, Al-Sayed, Moeenaldeen, Schiff, Manuel, Imrie, Jackie, Mabe, Paulina, Takahashi, Tsutomu, Mengel, Karl Eugen, Giugliani, Roberto, Cox, Gerald F.

“…Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of…”
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Japan Elaprase ® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II) by Okuyama, Torayuki, Tanaka, Akemi, Suzuki, Yasuyuki, Ida, Hiroyuki, Tanaka, Toju, Cox, Gerald F., Eto, Yoshikatsu, Orii, Tadao

“…This open-label clinical study enrolled 10 adults with attenuated Mucopolysaccharidosis II and advanced disease under the direction of the Japan Society for…”
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Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1 by Peterschmitt, M. Judith, Foster, Meredith C., Ji, Allena J., Zajdel, Marianne B., Cox, Gerald F.

“…In Gaucher disease type 1 (GD1), accumulation of the lipid substrates glucosylceramide and glucosylsphingosine (lyso-GL-1 or lyso-Gb1), primarily in the…”
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Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor by Xie, Qing, Chen, Xiupeng, Ma, Hong, Zhu, Yunxiang, Ma, Yijie, Jalinous, Leila, Cox, Gerald F, Weaver, Fiona, Yang, Jun, Kennedy, Zachary, Gruntman, Alisha, Du, Ailing, Su, Qin, He, Ran, Tai, Phillip WL, Gao, Guangping, Xie, Jun

“…Physiological regulation of transgene expression is a major challenge in gene therapy. Onasemnogene abeparvovec ( Zolgensma ® ) is an approved adeno-associated…”
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Incidence, Causes, and Outcomes of Dilated Cardiomyopathy in Children by Towbin, Jeffrey A, Lowe, April M, Colan, Steven D, Sleeper, Lynn A, Orav, E. John, Clunie, Sarah, Messere, Jane, Cox, Gerald F, Lurie, Paul R, Hsu, Daphne, Canter, Charles, Wilkinson, James D, Lipshultz, Steven E

“…CONTEXT Dilated cardiomyopathy (DCM) is the most common form of cardiomyopathy and cause of cardiac transplantation in children. However, the epidemiology and…”
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Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children : Findings from the pediatric cardiomyopathy registry by COLAN, Steven D, LIPSHULTZ, Steven E, LOWE, April M, SLEEPER, Lynn A, MESSERE, Jane, COX, Gerald F, LURIE, Paul R, ORAV, E. John, TOWBIN, Jeffrey A

“…Current information on the epidemiology and outcomes of hypertrophic cardiomyopathy (HCM) in children is limited by disease diversity and small case series…”
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A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration by Peterschmitt, M. Judith, Cox, Gerald F., Ibrahim, Jennifer, MacDougall, James, Underhill, Lisa H., Patel, Palni, Gaemers, Sebastiaan J.M.

“…Eliglustat, an oral substrate reduction therapy, is a first-line therapy for adults with Gaucher disease type 1 and a compatible CYP2D6 metabolizer phenotype…”
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Intracytoplasmic Sperm Injection May Increase the Risk of Imprinting Defects by Cox, Gerald F., Bürger, Joachim, Lip, Va, Mau, Ulrike A., Sperling, Karl, Wu, Bai-Lin, Horsthemke, Bernhard

“…In germ cells and the early embryo, the mammalian genome undergoes widespread epigenetic reprogramming. Animal studies suggest that this process is vulnerable…”
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Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency) by McGovern, Margaret M., Wasserstein, Melissa P., Kirmse, Brian, Duvall, W. Lane, Schiano, Thomas, Thurberg, Beth L., Richards, Susan, Cox, Gerald F.

“…Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann–Pick disease type B (NPD B). A…”
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Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry by El-Beshlawy, Amal, Tylki-Szymanska, Anna, Vellodi, Ashok, Belmatoug, Nadia, Grabowski, Gregory A, Kolodny, Edwin H, Batista, Julie L, Cox, Gerald F, Mistry, Pramod K

“…In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the…”
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Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: A comparative study from the Pediatric Cardiomyopathy Registry by Connuck, David M., MD, Sleeper, Lynn A., ScD, Colan, Steven D., MD, Cox, Gerald F., MD, PhD, Towbin, Jeffrey A., MD, Lowe, April M., MS, Wilkinson, James D., MD, MPH, Orav, E. John, PhD, Cuniberti, Leigha, BA, Salbert, Bonnie A., DO, Lipshultz, Steven E., MD

“…Objective The aim of this study was to determine in pediatric Duchenne (DMD) and Becker muscular dystrophy (BMD) or other dilated cardiomyopathies (ODCM)…”
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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry by D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige

“…Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used data from 891 patients in the…”
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