Active clinical trials for "Adrenoleukodystrophy"

To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)

X-linked adrenoleukodystrophy (ALD) is a genetic disorder affecting the brain and adrenal glands. Approximately one third of boys who are at risk will develop cerebral disease. Using a specific diet and the compound Lorenzo's oil, it can be shown that very long chain fatty acids may be lowered in the blood, but it is not known to what degree that may prevent the onset of childhood disease. This proposal makes available Lorenzo's oil to individuals with ALD, a life threatening disorder for which there are presently no other therapies.

This is a non-interventional, multi-center study that follows general principles of periodic assessment of X-ALD patients in routine practice. No study drug treatment will be given and no changes to patient treatment are necessary.

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.

OBJECTIVES: I. Evaluate bronchoalveolar lavage fluid and serum obtained from pediatric patients with storage disorders prior to allogeneic hematopoietic stem cell transplantation (HSCT) for the presence of proinflammatory cytokines and for the production of nitric oxide by alveolar macrophages to identify possible risk factors for pulmonary complications. II. Investigate the underlying mechanism for the development of significant pulmonary complications in these patients during HSCT. III. Evaluate bronchoalveolar lavage fluid and serum obtained from these same patients at the time a pulmonary complication develops post-HSCT, or at 60 days post-HSCT if there has been no pulmonary complications.