| Neurologically asymptomatic |
Investigation of molecular or neuroimaging biomarkers that correspond to neuropsychological outcomes, to aid in prediction of future phenotype Longitudinal investigation of quantitative neuroimaging and neurocognitive metrics prior to development of cerebral disease Investigation of impact of adrenal and androgen dysfunction on neuropsychological function
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| Cerebral ALD (CCALD & ACALD) |
Identification and validation of sensitive neurocognitive methods for quantifying early, and potentially more subtle, effects of cerebral disease Harmonization of neuropsychological and neuroimaging protocols across sites/centers Increased reporting of longitudinal neurocognitive outcomes of investigational therapies Quantitative investigation of long-term outcomes with respect to emotional and psychiatric health Investigation of the impact of neurocognitive and mental health symptoms on long-term academic, employment, interpersonal and quality of life outcomes post-treatment Investigation of trends in the use of medication management and behavioral treatment among HCT survivors to address neurocognitive and mental health impacts, including patient- and caregiver-reported benefit of these therapies Trials of alternative therapies for individuals with advanced cerebral disease, inclusive of neurocognitive, mental health, and quality of life endpoints
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| Myeloneuropathy |
Quantitative assessment of neurocognitive and psychiatric outcomes, including examining males and females separately In clinical trials, consideration not only of change in disability metrics, but also in mental health and quality of life
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| Caregivers/family |
Data collection and analysis regarding the experience of family members during the ALD journey (data on siblings and fathers is especially lacking), including barriers to care, routine screening of family psychological functioning, family perceptions of access to resources and support aids, the treatment decision-making process, and family planning decisions
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| All phenotypes |
Identification of the most important neuropsychological instruments and tools for measuring skills and symptoms across development; harmonization of those measures across sites/centers Increased sample sizes with enrollment across multiple sites/centers International consensus-based definition of subgroups in observational studies and clinical trials (i.e., using MRI findings, functional status) to clarify phenotype Incorporation of methodology in neurocognitive studies to account for neuroimaging findings, endocrine dysfunction and associated therapies, and psychosocial status of the family Psychiatric outcomes are described mostly in case studies; direct measurement of psychiatric symptomatology in group studies is needed; longitudinal examination of caregiver psychiatric symptomatology is also needed
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