Trial record 3 of 39 for:    Brain | "Adrenomyeloneuropathy"

Early Diagnosis Of Childhood Cerebral ALD

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02948062
Recruitment Status : Withdrawn (Funding unavailable)
First Posted : October 28, 2016
Last Update Posted : July 6, 2018
Information provided by (Responsible Party):
Masonic Cancer Center, University of Minnesota

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.

Condition or disease

Study Type : Observational
Actual Enrollment : 0 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Early Diagnosis Of Childhood Cerebral Adrenoleukodystrophy
Estimated Study Start Date : November 2018
Estimated Primary Completion Date : July 2023
Estimated Study Completion Date : July 2023

Primary Outcome Measures :
  1. 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 Outcome Measures :
  1. 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.

  2. Biomarker Study: Inflammation Markers [ Time Frame: 5 years ]
    Markers of inflammation (chitotriosidase, lipidomics including arachidonic acid metabolites and inflammatory cytokines).

  3. 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).

  4. Biomarker Study: Immunologic Activation [ Time Frame: 5 years ]
  5. Neuropsychology testing [ Time Frame: 5 years ]
    Extensive neuropsychology testing, including assessments of verbal comprehension, perceptual reasoning, working memory and processing speed.

Biospecimen Retention:   Samples Without DNA
Blood and cerebral spinal fluid.

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 5 Years   (Child)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
While this study will be registered with, 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.

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02948062

United States, Minnesota
Masonic Cancer Center, University of Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
Masonic Cancer Center, University of Minnesota
Principal Investigator: Paul Orchard, MD University of Minnesota - Clinical and Translational Science Institute

Responsible Party: Masonic Cancer Center, University of Minnesota Identifier: NCT02948062     History of Changes
Other Study ID Numbers: 2016NTLS155
MT2016-29R ( Other Identifier: University of Minnesota )
First Posted: October 28, 2016    Key Record Dates
Last Update Posted: July 6, 2018
Last Verified: July 2018

Keywords provided by Masonic Cancer Center, University of Minnesota:
Newborn Screening

Additional relevant MeSH terms:
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Hereditary Central Nervous System Demyelinating Diseases
Demyelinating Diseases
Mental Retardation, X-Linked
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Metabolism, Inborn Errors
Peroxisomal Disorders
Metabolic Diseases
Adrenal Insufficiency
Adrenal Gland Diseases
Endocrine System Diseases