EFFECT OF GLYCEROL TRIERUCATE ON CLINICAL COURSE OF ADRENOLEUKODYSTROPHY

三芥酸甘油酯对肾上腺脑白质营养不良临床病程的影响

• 批准号: 7604528
• 负责人: Gerald V. Raymond
• 金额: $ 0.57万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-12-01 至 2007-09-16
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7604528
• 关键词: ATP-Binding Cassette Transporters; Adrenal Cortex; Adrenoleukodystrophy; Affect; Age; Age-Years; Biological Assay; Blood; Carrier Proteins; Cerebrum; Childhood; Clinical; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Consultations; Defect; Diagnostic; Diet; Disease; Fatty acid glycerol esters; Funding; Genes; Grant; Hospitals; Image; Incidence; Institution; Link; Lorenzo' s oil; Magnetic Resonance Imaging; Magnetic Resonance Spectroscopy; Membrane Proteins; Nervous system structure; Neurologic; Neuropsychological Tests; Nutritional; Outcome Measure; Pathogenesis; Pathology; Plasma; Protein Family; Research; Research Personnel; Resources; Source; Tissues; United States National Institutes of Health; Very Long Chain Fatty Acid; Work; boys; hexacosanoic acid; male; member; trierucate

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Adrenoleukodystrophy (ALD) is an X-linked disorder caused by defects of the ABCD1 gene, a peroxisomal membrane protein that is a member of the ATP binding cassette transporter protein family. ALD is associated with the accumulation of saturated very long chain fatty acids (VLCFA), particularly hexacosanoic acid (C26:0) in tissues and plasma. This abnormality provides for the diagnostic assay which is exquisitely sensitive in affected males. Incidence of ALD is estimated to be 1:17,000. While the pathogenesis of ALD is incompletely understood, it is very likely that the VLCFA excess contributes to the manifestations of disease. While there is increase in all tissues, the major accumulations of VLCFA and pathology occur in the nervous system and adrenal cortex. Treatment with Lorenzo's oil has recently demonstrated promise in reducing the incidence of the childhood cerebral form of the disorder. We are continuing the treatment in an open trial using MRI and neuropsychological testing as a measure of outcome. Boys between the ages of 18 months and 6 years of age with a normal MRI at baseline assessment. This study is supported by the General Clinical Research Unit at Johns Hopkins Hospital. Boys are admitted to the Pediatric Clinical Research Unit (PCRU) and undergo neurologic assessment, neuropsychological testing, nutritional consultation, baseline blood work, and MRI and magnetic resonance spectroscopy imaging (MRSI). Boys are then begun on treatment with a diet low in fat and with Lorenzo's oil.

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