Joe T R Clarke

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. pmc 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
  2. doi request reprint 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
  3. ncbi request reprint Narrative review: Fabry disease
    Joe T R Clarke
    Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Ann Intern Med 146:425-33. 2007
  4. pmc Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy
    Joe T R Clarke
    Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ont
    CMAJ 174:189-90. 2006
  5. ncbi request reprint The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease
    Joe 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
  6. ncbi request reprint The Maternal Phenylketonuria Project: a summary of progress and challenges for the future
    Joe 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
  7. doi request reprint Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics
    Christiane 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
  8. pmc Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
    Gustavo 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
  9. pmc Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
    Gustavo 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
  10. doi request reprint Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression
    Scott W Bukovac
    Research Institute, Hospital for Sick Children, Toronto, Ont, Canada M5G 1X8
    Anal Biochem 381:276-8. 2008

Collaborators

Detail Information

Publications35

  1. pmc 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...
  2. doi request reprint 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...
  3. ncbi request reprint Narrative review: Fabry disease
    Joe T R Clarke
    Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
    Ann Intern Med 146:425-33. 2007
    ....
  4. pmc Is the current approach to reviewing new drugs condemning the victims of rare diseases to death? A call for a national orphan drug review policy
    Joe T R Clarke
    Department of Pediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ont
    CMAJ 174:189-90. 2006
  5. ncbi request reprint The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease
    Joe 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...
  6. ncbi request reprint The Maternal Phenylketonuria Project: a summary of progress and challenges for the future
    Joe 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...
  7. doi request reprint Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics
    Christiane 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...
  8. pmc Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease
    Gustavo 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...
  9. pmc Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis
    Gustavo 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...
  10. doi request reprint Cryptic splice site in the complementary DNA of glucocerebrosidase causes inefficient expression
    Scott 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...
  11. doi request reprint Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease
    Andrea 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...
  12. doi request reprint An evaluation framework for funding drugs for rare diseases
    Eric 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...
  13. doi request reprint An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper
    Christiane 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...
  14. doi request reprint Substrate reduction therapy in juvenile GM2 gangliosidosis
    Gustavo 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...
  15. ncbi request reprint CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features
    Michael 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...
  16. doi request reprint Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis
    Gustavo 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...
  17. ncbi request reprint The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease
    Chantal 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...
  18. ncbi request reprint Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA
    Avril 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...
  19. doi request reprint Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis
    Fatma 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...
  20. pmc Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease
    Fatma 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)...
  21. doi request reprint Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay
    Gustavo 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...
  22. doi request reprint 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...
  23. doi request reprint Clinical heterogeneity in ethylmalonic encephalopathy
    Nicole 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...
  24. ncbi request reprint Enzyme replacement therapy of Fabry disease
    Joe 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...
  25. pmc A survey of the pain experienced by males and females with Fabry disease
    Andrea L Gibas
    York University, Department of Psychology, School of Kinesiology and Health Science, Toronto, Ontario
    Pain Res Manag 11:185-92. 2006
    ..Males suffer extensively from this disease. Females, as genetic 'carriers', have traditionally been viewed as either asymptomatic or mildly afflicted with this disease...
  26. doi request reprint Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy
    Christiane 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...
  27. ncbi request reprint Treatment of lysosomal storage disorders : progress with enzyme replacement therapy
    Marianne 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...
  28. pmc The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
    Gustavo 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
    ..The purpose of this study was to delineate the natural history of the condition and identify genotype-phenotype correlations that might be helpful in predicting the course of the disease in individual patients...
  29. ncbi request reprint Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity
    Jessie 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...
  30. ncbi request reprint Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease
    Christiane 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...
  31. ncbi request reprint Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    Markus 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
    ..This prompted a study of the safety and efficacy of enzyme replacement at an earlier stage of Fabry disease...
  32. ncbi request reprint Ornithine transcarbamoylase deficiency presenting with acute liver failure
    Ahlam 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...
  33. ncbi request reprint Fabry's disease presenting as stroke in a young female
    Paul S Giacomini
    McGill University Health Center, Department of Neurology and Neurosurgery, Montreal, Quebec, Canada
    Can J Neurol Sci 31:112-4. 2004
    ..Male hemizygotes are generally more severely affected than heterozygote females. Clinical disease in females is thought to be due to unequal X chromosome inactivation...
  34. ncbi request reprint Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
    Nancy 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...
  35. pmc Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females
    Ken 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...