Studying Macrophage Activation in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy, and Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia

What this Trial Is About

Researchers are studying adults and children affected by several inherited brain diseases including adrenomyeloneuropathy AMN, cerebral adrenoleukodystrophy cALD, metachromatic leukodystrophy MLD, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ALSP. These conditions involve nerve damage and inflammation, and the study aims to understand how immune cells called macrophages contribute to disease progression. This observational study involves 49 participants and explores how genetic mutations affect immune responses linked to these diseases. Participants include affected children and adults as well as healthy controls. The main activity involves collecting one blood sample during a routine medical visit. This sample will be used to analyze macrophage function, including their ability to engulf myelin, their distribution, and certain immune markers. No treatments or interventions are given, as this is a minimal risk study focusing on immune system activity related to these conditions. During the study, researchers will monitor macrophage function and gene activity over a two-year period following blood collection. Participants will have one blood draw during their scheduled medical follow-up. The study also includes healthy children and adults for comparison. The research team will track immune cell profiles and metabolic patterns to better understand how immune responses may influence disease outcomes in these leukodystrophies.

Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia