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ClinicalTrials.gov Identifier: NCT02948062
Recruitment Status :
The goal of this single institution study is to evaluate boys with adrenoleukodystrophy (ALD) diagnosed early in life, and to prospectively monitor them to determine parameters that will facilitate earlier detection of the childhood cerebral form of the disease. These at-risk subjects will be assessed yearly through travel to the University of Minnesota, where plasma and cerebral spinal fluid (CSF) biomarker studies, MRI based imaging and neuropsychological assessments will be performed at the University of Minnesota Masonic Children's Hospital and Clinics. The MRI and lumbar puncture to obtain CSF will be obtained under sedation. In addition, at intervening 6 months intervals information will be obtained remotely, including surveys and MRI's in their home location. Also at that time blood samples will be obtained locally and shipped to the University of Minnesota for study. There is no therapeutic intent in this study.
To evaluate boys with adrenoleukodystrophy (ALD) diagnosed early in life, and to prospectively determine factors that have a high correlation with the emergence of cerebral ALD.
Secondary Outcome Measures :
Emergence of cerebral disease through imaging [ Time Frame: 5 years ]
The ability to discern the emergence of cerebral disease through imaging prior to the onset of classic T2 imaging. This will include diffusion tensor imaging (DTI), T1 and T2 rho, RAFF and spectroscopy, in addition to the standard MRI evaluations including gadolinium enhancement.
Biomarker Study: Inflammation Markers [ Time Frame: 5 years ]
Markers of inflammation (chitotriosidase, lipidomics including arachidonic acid metabolites and inflammatory cytokines).
Biomarker Study: Oxidative Stress [ Time Frame: 5 years ]
Determinations of oxidative stress (including but not limited to total and reduced/oxidized glutathione and 4-hydroxynonenal, or 4-HNE).
Biomarker Study: Immunologic Activation [ Time Frame: 5 years ]
Neuropsychology testing [ Time Frame: 5 years ]
Extensive neuropsychology testing, including assessments of verbal comprehension, perceptual reasoning, working memory and processing speed.
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Ages Eligible for Study:
1 Year to 5 Years (Child)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
While this study will be registered with clinicaltrials.gov, no specific patient recruitment materials will be utilized. However, various Foundations and Patient Groups will be contacted. In addition, we will work with providers, neurologists, genetic counselors, etc. in the areas where newborn screening is taking place. We will also be available for families and providers at other institutions where a diagnosis may be made.
Boys with confirmed adrenoleukodystrophy, as determined by very long chain fatty acid (VLCFA) analysis and/or genotyping. Genotyping is not necessary for diagnosis.
Between 1 and 5 years of age, inclusive at the time of consent.
Able to undergo a sedation
English as primary language of the household, to maximize consistency of the neuropsychological/developmental testing.
Voluntary written parental/guardian consent
Evidence of cerebral disease at time of enrollment - patients over 3 years of age must have an MRI within 4 months of signing consent to confirm that there is no evidence of cerebral disease
Inability or unwillingness to travel to the University of Minnesota once a year for the duration of the study
Evidence of cerebral disease by standard T2/FLAIR MRI. If a subject develops cerebral ALD during the study, they will come off study, as it is anticipated that they would be considered for transplantation.