Research Topics
| Gerald RaymondSummaryAffiliation: Kennedy Krieger Institute Country: USA Publications
Research Grants
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Detail Information
Publications
Chitotriosidase as a biomarker of cerebral adrenoleukodystrophyPaul J Orchard
Department of Pediatrics, Program in Blood and Marrow Transplantation, University of Minnesota, Minneapolis, USA
J Neuroinflammation 8:144. 2011..To date there is no means of quantitating neuroinflammation in C-ALD, nor is there an accepted measure to determine prognosis for more advanced patients...- Peroxisomal disordersG V Raymond
Kennedy Krieger Institute, 707 N Broadway, Baltimore, MD 21205, USA
Curr Opin Neurol 14:783-7. 2001..New information on clinical incidence, phenotypic variability, and pathogenesis is becoming available and will have implications for possible therapies... - Newborn screening for adrenoleukodystrophy: implications for therapyGerald V Raymond
Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA
Mol Diagn Ther 11:381-4. 2007..In this review, we discuss the rationale for early detection, its effect on treatment, and some of the uncertainties... - Peroxisomal disordersG V Raymond
Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Curr Opin Pediatr 11:572-6. 1999..Whether any of these therapies will result in clinical improvement awaits additional study... - Evaluation of therapy of X-linked adrenoleukodystrophyHugo W Moser
Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology, Johns Hopkins University, USA
Neurochem Res 29:1003-16. 2004 - Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trialsH W Moser
Kennedy Krieger Institute and the Department of Neurology at Johns Hopkins University, Baltimore, MD 21205, USA
J Inherit Metab Dis 23:273-7. 2000..2) We present plans for the development of a placebo-controlled multicentre international study that will have sufficient biostatistical power to provide objective evaluation of new therapeutic interventions... - A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblastsS J Steinberg
Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
J Inherit Metab Dis 32:109-19. 2009..Furthermore, it supports the concept that some tissues are less affected by certain PEX gene defects than brain and liver... - Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophyB M van Geel
Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA
Ann Neurol 49:186-94. 2001..This may have implications for the phenotype classification, the search for modifying factors, and the development and evaluation of new therapies... - Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathyA Fatemi
Neurogenetics Research Center, Kennedy Krieger Institute, Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Neurology 64:1739-45. 2005..CONCLUSION: Magnetization transfer-weighted imaging is a sensitive modality for the visual and quantitative assessment of spinal cord pathology in adrenomyeloneuropathy, and is a potential tool for evaluation of new therapies... - MRI and proton MRSI in women heterozygous for X-linked adrenoleukodystrophyA Fatemi
Kennedy Krieger Institute, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
Neurology 60:1301-7. 2003..To utilize neuroimaging procedures to assess the extent of cerebral involvement in female subjects heterozygous for X-linked adrenoleukodystrophy (X-ALD)... - Proton MR spectroscopic imaging predicts lesion progression on MRI in X-linked adrenoleukodystrophyF S Eichler
F.M. Kirby Research Center for Functional Brain Imaging, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD 21205, USA
Neurology 58:901-7. 2002..Multislice proton MRSI may be a suitable technique for the prediction of lesion progression on MRI in X-linked adrenoleukodystrophy... - Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screeningL Bezman
Department of Neurology, Kennedy Krieger Institute and the Johns Hopkins School of Medicine, Baltimore, MD 21205, USA
Ann Neurol 49:512-7. 2001..Identification of heterozygotes provides the opportunity for disease prevention through genetic counseling. Diagnostic tests should be offered to all at-risk relatives of X-ALD patients and should include members of the extended family... - Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficienciesP A Watkins
Kennedy Krieger Research Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Ann Neurol 38:472-7. 1995..Based on these findings, accurate early diagnosis of these deficiencies of peroxisomal beta-oxidation enzymes is possible... - Spectroscopic evidence of cerebral axonopathy in patients with "pure" adrenomyeloneuropathyP Dubey
Departments of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA
Neurology 64:304-10. 2005..The axonopathy is most prominent in internal capsule and parieto-occipital white matter and may contribute to clinical disability... - Severe phenotypes associated with inactive ring X chromosomesB R Migeon
McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21287 3914, USA
Am J Med Genet 93:52-7. 2000.... - Immunopathogenesis of adrenoleukodystrophy: current understandingMichelle P Hudspeth
Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Bunting Blaustein Cancer Research Building, Rm 255 1650 Orleans Street Baltimore, MD 21231, United States
J Neuroimmunol 182:5-12. 2007.... - Peroxisome biogenesis disordersSteven J Steinberg
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Biochim Biophys Acta 1763:1733-48. 2006..Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly... - Adrenoleukodystrophy: new approaches to a neurodegenerative diseaseHugo W Moser
Author Affliations Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA
JAMA 294:3131-4. 2005..Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder... - "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacyHugo W Moser
Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA
J Mol Neurosci 33:105-13. 2007..We also present current efforts to provide definitive evaluation of its clinical efficacy and discuss its possible role in the new therapeutic opportunities that will arise if newborn screening for X-ALD is validated and implemented... - Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oilHugo W Moser
Kennedy Krieger Institute, Baltimore, MD 21205, USA
Arch Neurol 62:1073-80. 2005..To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression... - Auditory function in adrenomyeloneuropathyJoseph P Pillion
Kennedy Krieger Institute, United States
J Neurol Sci 269:24-9. 2008..Word recognition in quiet was relatively unimpaired for all subjects. Despite the presence of marked ABR abnormalities, patients with AMN denied the presence of significant difficulty hearing... - Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trialsHugo W Moser
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Adv Exp Med Biol 544:369-87. 2003 - Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersDeyanira Corzo
Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
Am J Hum Genet 70:1520-31. 2002..The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED.. - X-linked adrenoleukodystrophyHugo W Moser
Neurogenetics Research Center, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
Nat Clin Pract Neurol 3:140-51. 2007..A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD... - Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison studyAsif Mahmood
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Lancet Neurol 6:687-92. 2007..We analysed survival of CCALD patients who had not received HCT and, in a subgroup with early cerebral disease, compared survival in those who underwent HCT with those who did not... - Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophyFlorian Eichler
Department of Neurology, Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
Arch Neurol 64:659-64. 2007..An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination... - Sensorimotor function and axonal integrity in adrenomyeloneuropathyKathleen M Zackowski
Kennedy Krieger Institute, The Johns Hopkins University; Baltimore, MD 21205, USA
Arch Neurol 63:74-80. 2006..Tract-specific magnetic resonance imaging metrics, such as fractional anisotropy (used herein to evaluate structure-function relationships), significantly reflect disease severity in AMN... - Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophyChristiane S Cox
Kennedy Krieger Institute, The Johns Hopkins University, Baltimore, MD 21205, USA
Arch Neurol 63:69-73. 2006..X-linked adrenoleukodystrophy should be considered a candidate disorder for neonatal screening... - Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathyPrachi Dubey
Department of Neurogenetics and Functional Magnetic Resonance Imaging Kirby Center, Kennedy Krieger Institute, Baltimore, MD 21205, USA
Ann Neurol 58:758-66. 2005..Accompanying abnormalities in genu of corpus callosum indicate that the disease pathology in pure AMN may not be limited to spinal cord long tracts alone, although the involvement of the latter is most prominent and severe... - Magnetization transfer weighted imaging in the upper cervical spinal cord using cerebrospinal fluid as intersubject normalization reference (MTCSF imaging)Seth A Smith
F. M. Kirby Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Magn Reson Med 54:201-6. 2005..As a first example, this is demonstrated for the noninflammatory spinal cord white matter disease adrenomyeloneuropathy... - Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal trackingSusumu Mori
Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Magn Reson Med 47:215-23. 2002..As a first illustration of this technical capability, a reduction in brain connectivity in a patient with a childhood neurodegenerative disease (X-linked adrenoleukodystrophy) was demonstrated... - Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screeningPrachi Dubey
Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
J Pediatr 146:528-32. 2005..It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening... - Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experienceFlorian S Eichler
F. M. Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
Radiology 225:245-52. 2002....
Research Grants
- Newborn Screening for AdrenoleukodystrophyGerald V Raymond; Fiscal Year: 2010..Broader use of this optimized method should allow quicker diagnosis for families and maximum translation of recent therapeutic interventions. ..
- Functional Studies in AdrenomyeloneuropathyGerald Raymond; Fiscal Year: 2005..abstract_text> ..
- Multicenter Therapeutic Trials of X-Linked ALDGerald Raymond; Fiscal Year: 2006....
- A Phase III Trial of Lorenzo's Oil in AdrenomyeloneuropathyGerald Raymond; Fiscal Year: 2007..This would accelerate the evaluation of therapeutic interventions in AMN. These techniques may also be applicable to the study of other spinal cord disorders. ..
- THERAPEUTIC TRIALS OF X-LINKED ALD: PHASE III; LORENZO*Gerald Raymond; Fiscal Year: 2007..It is now recognized that 50% of heterozygous develop pure AMN which may lead to considerable disability. This is the first therapeutic study that also involves women heterozygous for X-ALD. ..
- A Phase III Trial of Lorenzo's Oil in AdrenomyeloneuropathyGerald Raymond; Fiscal Year: 2009..This would accelerate the evaluation of therapeutic interventions in AMN. These techniques may also be applicable to the study of other spinal cord disorders. ..
- Newborn Screening for AdrenoleukodystrophyGerald Raymond; Fiscal Year: 2009..Broader use of this optimized method should allow quicker diagnosis for families and maximum translation of recent therapeutic interventions. ..