Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy
Year: 2022
Type: article
Study design: Observational Study
Abstract: BACKGROUND AND OBJECTIVES: We sought to characterize the natural history and standard-of-care practices between the radiologic appearance of brain lesions, the appearance of lesional enhancement, and treatment with hematopoietic stem-cell transplant or gene therapy among boys diagnosed with presymptomatic childhood-onset cerebral adrenoleukodystrophy (CCALD). METHODS: We analyzed a multicenter, mixed retrospective/prospective cohort of patients diagnosed with presymptomatic CCALD (Neurologic Function Score = 0, Loes Score [LS] = 0.5-9.0, and age <13 years). Two time-to-event survival analyses were conducted: (1) time from CCALD lesion onset-to-lesional enhancement and (2) time from enhancement-to-treatment. The analysis was repeated in the subset of patients with (1) the earliest evidence of CCALD, defined as an MRI LS ≤ 1, and (2) patients diagnosed between 2016 and 2021. RESULTS: = 0.003). DISCUSSION: Our findings offer a more refined understanding of the timing of lesion formation, enhancement, and treatment among boys with presymptomatic CCALD. These data offer benchmarks for standardizing clinical care and designing future clinical trials.
Source: Neurology
Institutions: Kennedy Krieger Institute, Lucile Packard Children's Hospital, Memorial Sloan Kettering Cancer Center, NewYork–Presbyterian Hospital, Harvard University, Johns Hopkins University, Massachusetts General Hospital, Emma Kinderziekenhuis, Amsterdam University Medical Centers, Weill Cornell Medicine, Stanford University
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: green
Awards: Intellectual and Developmental Disabilities Research Centers 2020, A mobile health tool to improve antibiotic stewardship among village doctors in Bangladesh, WCMC Child Neurology Postdoctoral Training in Developmental Neurosciences, A Phase III Trial of Lorenzo's Oil in Adrenomyeloneuropathy, G7988125268, Cancer Center Support Grant, Leveraging Myelin-Sensitive Imaging to Predict Early Lesion Pathogenesis in Cerebral Adrenoleukodystrophy, Global Leukodystrophy Initiative Clinical Trials Network (GLIA- CTN)
OpenAlex ID: W4282931978