Early Diagnosis Of Childhood Cerebral Adrenoleukodystrophy
Trial Snapshot
- Phase
- Not Applicable
- Status
- Withdrawn
- Locations
- 1
- Primary Endpoint
- ALD Early Evaluation
Study Overview
Brief Summary
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 1 Year to 5 Years (Child)
- Sex
- Male
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Exclusion Criteria
- •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.
Outcomes
Primary Outcomes
ALD Early Evaluation
Time Frame: 5 years
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 Outcomes
- Emergence of cerebral disease through imaging(5 years)
- Biomarker Study: Inflammation Markers(5 years)
- Biomarker Study: Oxidative Stress(5 years)
- Biomarker Study: Immunologic Activation(5 years)
- Neuropsychology testing(5 years)