Early Diagnosis Of Childhood Cerebral ALD

NCT02948062 | Withdrawn

• 2 other identifiers: 2016NTLS155MT2016-29R
• Study Type: observational
• Target: N/A
• Locations: 1 country
• Sites: 1

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.

Conditions

Adrenoleukodystrophy

Keywords

ALD; Newborn Screening

Outcome Measures

Primary Outcomes (1)

• ALD Early Evaluation

  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.

  5 years

Secondary Outcomes (5)

• 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

Eligibility Criteria

• Age: 1 Year - 5 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Masonic Cancer Center, University of Minnesota: lead

Study Sites (1)

Masonic Cancer Center, University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood and cerebral spinal fluid.

MeSH Terms

Conditions

Adrenoleukodystrophy

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hereditary Central Nervous System Demyelinating Diseases; Leukoencephalopathies; Demyelinating Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Peroxisomal Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Adrenal Insufficiency; Adrenal Gland Diseases; Endocrine System Diseases

Study Officials

• Paul Orchard, MD

  University of Minnesota

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 25, 2016
• First Posted: October 28, 2016
• Study Start: November 1, 2018
• Primary Completion: July 1, 2023
• Study Completion: July 1, 2023
• Last Updated: July 6, 2018

Record last verified: 2018-07

Locations

US (1)