Research Topics
Species | Joe T R ClarkeSummaryAffiliation: The Hospital for Sick Children Country: Canada Publications
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Publications
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)Joe T R Clarke
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Mol Genet Metab 102:6-12. 2011..Further plans are underway to extend these trials and to develop methods to assess clinical efficacy...
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS)Joe T R Clarke
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Value Health 14:862-6. 2011..The Fabry Outcome Survey (FOS) is a Shire Human Genetic Therapies-sponsored, physician-directed registry of patients with Fabry disease, a rare, multisystem, lysosomal storage disorder, established in 2001...
Narrative review: Fabry diseaseJoe T R Clarke
Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Ann Intern Med 146:425-33. 2007....- Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policyJoe T R Clarke
Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ont
CMAJ 174:189-90. 2006 - The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry diseaseJoe T R Clarke
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Genet Med 9:504-9. 2007..This 10-week study was conducted to determine the pharmacokinetics of varying doses of agalsidase alfa and evaluate the effect of dose and dosing frequency on plasma Gb3 levels... - The Maternal Phenylketonuria Project: a summary of progress and challenges for the futureJoe T R Clarke
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, and University of Toronto, Toronto, Ontario, Canada
Pediatrics 112:1584-7. 2003..Psychosocial problems are the most pervasive obstacle to the achievement of optimum dietary treatment. Novel, nondietary approaches to the treatment of maternal phenylketonuria are under development... - Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomicsChristiane Auray-Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
Anal Chem 84:2745-53. 2012..None of these biomarkers were detected in controls. To our knowledge, this is the first time that lyso-Gb(3)-related Fabry disease biomarkers are detected in urine... - Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseGustavo H B Maegawa
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
J Biol Chem 284:23502-16. 2009..Thus, ABX has the biochemical characteristics of a safe and effective enzyme enhancement therapy agent for the treatment of patients with the most common GD genotypes... - Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosisGustavo H B Maegawa
Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
J Biol Chem 282:9150-61. 2007..We concluded that PYR functions as a mutation-specific PC, variably enhancing residual lysosomal Hex A levels in late-onset GM2 gangliosidosis patient cells... - Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expressionScott W Bukovac
Research Institute, Hospital for Sick Children, Toronto, Ont, Canada M5G 1X8
Anal Biochem 381:276-8. 2008..The level of glucocerebrosidase expression was increased sixfold. These data demonstrate that for maximum expression of any cDNA construct, the transcription products should be examined... - Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry diseaseAndrea L Gibas
Department of Psychology and School of Kinesiology and Health Science, York University Toronto, Toronto, ON, Canada
J Genet Couns 17:528-37. 2008..The role of healthcare professionals, including genetic counselors, in remedying this disadvantage is reviewed... - An evaluation framework for funding drugs for rare diseasesEric Winquist
London Health Sciences Centre and Schulich School of Medicine and Dentistry, Western University, London, ON, Canada
Value Health 15:982-6. 2012..The Ontario Public Drug Programs convened the Drugs for Rare Diseases Working Group to develop a policy for assessing these drugs... - An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paperChristiane Auray-Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Sherbrooke, QC, Canada
Clin Chim Acta 413:771-8. 2012..Mucopolysaccharidoses are complex lysosomal storage disorders caused by any of eleven different enzyme deficiencies resulting in the accumulation of substrates, mainly glycosaminoglycans (GAGs), in various tissues and biological fluids... - Substrate reduction therapy in juvenile GM2 gangliosidosisGustavo H B Maegawa
Div of Clinical and Metabolic Genetics, Hospital for Sick Children, Ont, Canada
Mol Genet Metab 98:215-24. 2009..The results must be interpreted with care owing to the small sample of patients and the lack of a control-arm... - CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic featuresMichael Weinstein
Hospital for Sick Children, Pediatrics, Toronto, Ontario, Canada
Am J Med Genet A 136:194-7. 2005..The child described here further delineates the clinical spectrum of CDG-IL and confirms the significant clinical overlap amongst CDG subtypes... - Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosisGustavo H B Maegawa
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ont, Canada
Mol Genet Metab 97:284-91. 2009..Miglustat was shown to be a safe drug, with mild to moderate diarrhea, as an age-dependent DRAE, which was controlled by dietary modification... - The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry diseaseChantal F Morel
Department of Medicine, University Health Network and Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Expert Opin Biol Ther 9:631-9. 2009..Enzyme replacement therapy (ERT) with agalsidase alfa (Replagal, Shire Human Genetic Therapies) is approved for use by 40 countries, but not the US... - Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNAAvril E Castagna
Scarborough General Hospital, Hospital for Sick Children, Toronto, Ontario
Am J Med Genet A 143:808-16. 2007..We propose that the 9,185T > C mtDNA mutation is pathogenic even though the initial phenotype is mild and the biochemical phenotype not easily detectable... - Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosisFatma Al-Jasmi
Molecular Hematopathology Laboratory, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Ontario, Canada
J Pediatr Hematol Oncol 30:621-4. 2008..Homozygosity was established to be the result of uniparental disomy of the maternal chromosome 10. Uniparental disomy increases the risk of autosomal recessive disease... - Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic diseaseFatma Al-Jasmi
Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada
BMC Med Educ 10:72. 2010..Computer-based teaching (CBT) is a well-known educational device, but it has never been applied systematically to the teaching of a complex, rare, genetic disease, such as Hunter disease (MPS II)... - Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delayGustavo H B Maegawa
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 146:1581-6. 2008..This is the first report of a patient with fatty acid oxidation defect caused by a mutation in combination with an interstitial chromosomal deletion... - How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?Christiane Auray-Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Sherbrooke, Quebec, Canada
Clin Chim Acta 411:1906-14. 2010..A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the disease. Until now, lyso-Gb(3) was not detectable in urine, possibly because of the presence of interfering compounds... - Clinical heterogeneity in ethylmalonic encephalopathyNicole Pigeon
Department of Pediatrics, Universite de Sherbrooke, Quebec, Canada
J Child Neurol 24:991-6. 2009..These patients illustrate the clinical heterogeneity of ethylmalonic encephalopathy, even in monochorionic twins... - Enzyme replacement therapy of Fabry diseaseJoe T R Clarke
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada
Mol Neurobiol 32:43-50. 2005..Treatment of Fabry disease by enzyme replacement has a significant impact on at least some serious complications of the disease... - A survey of the pain experienced by males and females with Fabry diseaseAndrea L Gibas
York University, Department of Psychology, School of Kinesiology and Health Science, Toronto, Ontario
Pain Res Manag 11:185-92. 2006..The diagnostic delay and absence of a decline in pain symptoms over time in females suggest additional disease burden. Females may be triply disadvantaged in the health care system due to disease rarity, devalued carrier status and sex... - Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathyChristiane Gruner
Division of Cardiology, Peter Munk Cardiac Centre, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada
Echocardiography 29:810-7. 2012..The aim of this study was to assess myocardial mechanics in AFD according to the presence of left ventricular hypertrophy (LVH) compared to nonobstructive HCM (NHCM) and healthy controls... - Treatment of lysosomal storage disorders : progress with enzyme replacement therapyMarianne Rohrbach
Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Drugs 67:2697-716. 2007..The information that is currently being collected as part of large-scale observational studies will help to establish the full potential of the treatment... - The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reportedGustavo H B Maegawa
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, 555 University Ave, Toronto, Ontario, Canada M5G 1X8
Pediatrics 118:e1550-62. 2006..Among patients with the Tay-Sachs variant, the HEXA genotype showed a significant correlation with the clinical course... - Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activityJessie M Cameron
Metabolism Research Programme, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 140:1542-52. 2006..This may account for the differing clinical phenotypes. These findings have important repercussions for other patients with similar clinical phenotypes, as DLD activity is not normally measured in cases with normal PDHc activity... - Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry diseaseChristiane Auray-Blais
Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Universite de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Que, Canada J1H 5N4
Mol Genet Metab 93:331-40. 2008..0001) and treatment (p = 0.0011). In conclusion, we studied 35 mutations in 110 children and adults with Fabry disease and found a significant correlation between the types of mutations and total Gb3 excretion in Fabry patients... - Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA
Pediatrics 118:924-32. 2006..Prospective long-term studies are needed to assess whether enzyme replacement initiated early in patients with Fabry disease is able to prevent major organ failure in adulthood... - Ornithine transcarbamoylase deficiency presenting with acute liver failureAhlam Mustafa
Alberta Children s Hospital, University of Calgary, Calgary, Alberta, Canada
J Inherit Metab Dis 29:586. 2006..OTC deficiency should be considered in the differential diagnosis of infants presenting with acute hepatocellular dysfunction, especially in females... - Fabry's disease presenting as stroke in a young femalePaul S Giacomini
McGill University Health Center, Department of Neurology and Neurosurgery, Montreal, Quebec, Canada
Can J Neurol Sci 31:112-4. 2004..Muscle biopsy can assist with the diagnosis and guide further investigations. This report summarizes the biochemical and histological features of Fabry's disease and the associated genetic abnormalities... - Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman
McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Hum Mutat 20:284-97. 2002..We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes... - Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 71:838-53. 2002..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining...