Current and Future Pharmacological Treatment Strategies in X-Linked Adrenoleukodystrophy

Abstract DMutations in the ABCD1 gene cause the clinical spectrum of the neurometabolic disorder X-linked adrenoleukodystrophy/adrenomyeloneuropathy (X-ALD/AMN). Currently, the most efficient therapeutic opportunity for patients with the cerebral form of X-ALD is hematopoietic stem cell transplantation and possibly gene therapy of autologous hematopoietic stem cells. Both treatments, however, are only accessible to a subset of…

N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy

Abstract Hematopoietic stem cell transplantation as a treatment for childhood cerebral adrenoleukodystrophy (ALD) has historically only been successful in early disease. As ALD is associated with oxidative damage, we reasoned that adjunctive therapy with an antioxidant agent, N-acetyl-L-cysteine (NAC), may provide protection from rapid neurologic decline in boys with advanced cerebral disease. We report three…

Combo of Antioxidants a Potential Therapy for Adrenomyeloneuropathy, Trial Suggests

Targeting oxidative stress with antioxidants holds promise to improve symptoms of adrenomyeloneuropathy (AMN), a pilot Phase 2 study suggests. The results show that treatment with a combo of antioxidants decreases inflammation and enhances patients’ walking capacity. The study, “Biomarker identification, Safety and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot study,” was published…

Antioxidants Halt Axonal Degeneration in a Mouse Model of X-Adrenoleukodystrophy

Objective: Axonal degeneration is a main contributor to disability in progressive neurodegenerative diseases in which oxidative stress is often identified as a pathogenic factor. We aim to demonstrate that antioxidants are able to improve axonal degeneration and locomotor deficits in a mouse model of X-adrenoleukodystrophy (X-ALD). Methods: X-ALD is a lethal disease caused by loss…