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Motion Analysis Lab Research: Motor Concepts of Adrenomyeloneuropathy
Sponsor: NIH NICHD
X Linked Adrenoleukodystrophy (X-ALD) is a serious progressive, genetic disorder, which affects the adrenal glands and the white matter of the nervous system. It is due to a defect in the gene ABCD1 which has been mapped to Xq28. The presentation of X-ALD varies widely, with differing severities and age of onset. The most frequently observed phenotypes are childhood cerebral X-ALD, adrenomyeloneuropathy (AMN), and adrenocortical insufficiency (Addison’s disease) without nervous system involvement. AMN is the adult form of X-ALD and is the most common, encompassing approximately 40% of all patients. It is a non-inflammatory, distal axonopathy that presents at an average age of 28 and affects mainly the long tracts of the spinal cord. It is slowly progressive over decades, although approximately 40% of male AMN patients eventually develop cerebral involvement, which leads to more rapid progression of the disease. Major manifestations are adrenal impairment, varying degrees of difficulty with walking due to spasticity, urinary disturbances and impotence, and sometimes cognitive defects, emotional disturbances and depression. There is no broadly effective therapy for X-ALD. Oral administration of 4:1 glyceryl trioleate (GTO)/glyceryl trierucate (GTE), now referred to as Lorenzo’s Oil (LO) is an effective way to normalize the plasma VLCFA levels in patients with X-ALD.2 LO has a striking biochemical effect: it normalizes plasma VLCFA levels in X-ALD patients within four weeks. There is evidence suggesting that LO has a clinical effect as a preventive of neurological damage in asymptomatic patients and in pure AMN, however no controlled studies have been done. We will test 240 adults (120 men and 120 women) with X-ALD. The primary objective is to determine whether the administration of Lorenzo’s Oil to adults with X-ALD slows the clinical progression of this disorder. In addition we will determine the degree to which newly developed methods to assess spinal cord function and structure in AMN, namely quantitative sensorimotor tests and spinal cord imaging, can act as early surrogate markers of disease progression. This study provides the first opportunity for a definitive appraisal of the “Lorenzo’s Oil” therapy, which has been a matter of controversy for the last 14 years.