Clinical trial NCT02948062: Early Diagnosis Of Childhood Cerebral ALD
Official title: Early Diagnosis Of Childhood Cerebral Adrenoleukodystrophy
Study type: OBSERVATIONAL
Overall status: WITHDRAWN
Conditions: Adrenoleukodystrophy
Keywords: ALD
Newborn Screening
Lead sponsor: Masonic Cancer Center, University of Minnesota
Sponsor class: OTHER
First posted: 2016-10-28
Enrollment: 0
Sex: MALE
Minimum age (years): 1
Maximum age (years): 5
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: ALD Early Evaluation
timeFrame: 5 years
Secondary outcomes:
measure: Emergence of cerebral disease through imaging
timeFrame: 5 years
measure: Biomarker Study: Inflammation Markers
timeFrame: 5 years
measure: Biomarker Study: Oxidative Stress
timeFrame: 5 years
measure: Biomarker Study: Immunologic Activation
timeFrame: 5 years
measure: Neuropsychology testing
timeFrame: 5 years
Other outcomes:
Locations:
city: Minneapolis
country: United States
facility: Masonic Cancer Center, University of Minnesota
state: Minnesota
Study officials:
affiliation: University of Minnesota
name: Paul Orchard, MD
role: PRINCIPAL_INVESTIGATOR
References: