Research

New Research: Endogenous Repair in Vanishing White Matter

Research / November 4, 2025

A newly published article, “Endogenous Repair in Vanishing White Matter” explores how the brain may attempt to repair the white-matter damage characteristic of Vanishing White Matter (VWM) disease. This groundbreaking study was made possible through brain donations from VWM patients and their families. Their extraordinary generosity enables scientists to deepen their understanding of VWM and …

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The Hidden Impact of Vanishing White Matter (VWM) on Families

News, Research / September 4, 2025

New Research Sheds Light on the Burden for Parents, Siblings, and Partners A groundbreaking international study has revealed something our community has long known: Vanishing White Matter (VWM) doesn’t just affect patients. It deeply impacts their families too. A new study, “The impact of vanishing white matter on unaffected family members,” published in the Orphanet …

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The Translational Landscape of Reactive Astrocytes Reveals the Impact of eIF2B-mediated Dysregulation in VWM Disease

Research / April 9, 2025

Understanding Vanishing White Matter Disease Through Astrocyte Translation Regulation This study investigates the molecular underpinnings of Vanishing White Matter Disease (VWMD), a severe, inherited neurodegenerative disorder caused by mutations in the eIF2B complex, a critical regulator of mRNA translation and the integrated stress response. VWMD primarily affects astrocytes, the brain’s support cells, yet the specific …

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Atypical Presentation of MLD Without White Matter Changes

Research / March 7, 2025

Atypical Presentation of Metachromatic Leukodystrophy (MLD) Without White Matter Changes A recent case study published in Neurology International “Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes” highlights an unusual presentation of Metachromatic Leukodystrophy (MLD), a rare autosomal recessive disorder characterized by demyelination in both the central and …

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STUDY: Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism

News, Research / February 19, 2025

Understanding CSF1R-Related Leukodystrophy and a Potential New Treatment: Iluzanebart This study titled Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism and published by Journal of Neuroinflammation, explores CSF1R-related adult-onset leukodystrophy with axonal spheroids and pigmented glia (CSF1R-ALSP), a rare neurodegenerative disease caused by mutations in …

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FDA Approves First Treatment for CTX, a Rare Lipid Storage Disease

News, Research / February 21, 2025

PRESS RELEASE: FDA Approves First Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disease The U.S. Food and Drug Administration (FDA) has approved Ctexli (chenodiol) as the first treatment for cerebrotendinous xanthomatosis (CTX), a rare lipid storage disorder. CTX is a genetic condition caused by mutations in the CYP27A1 gene, leading to improper cholesterol breakdown …

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STUDY: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

News, Research / February 19, 2025

Understanding TUBB4A-Related Leukodystrophy in Children: A Study on Disease Progression and Symptoms This study titled The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy and published in Molecular Genetics and Metabolism, focuses on TUBB4A-related leukodystrophy, a rare genetic disorder that affects the brain’s white matter (the part of the brain responsible for communication between …

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Study: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes

News, Research / February 19, 2025

Research Summary: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes In this study, titled Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes, and publshed by Frontiers in Molecular Neuroscience, investigates how dysfunction in peroxisomes — small cell structures that break down fatty acids — affects …

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Study: Progression of Spinal Cord Disease in Adult Men With ALD

Research / January 22, 2025

The article, Progression of Spinal Cord Disease in Adult Men with Adrenoleukodystrophy, details the results of a long-term study on the progression of spinal cord disease in adult men with ALD. The study, which followed 79 patients over seven years, used clinical tools like the EDSS, SSPROM, and 6MWT to measure disease progression. It showed …

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Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile MLD: a long-term follow-up pilot study

Research / January 22, 2025

The study “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study” investigates a pioneering treatment for juvenile metachromatic leukodystrophy (MLD), a rare, inherited neurological disorder caused by a deficiency in the ARSA enzyme. This enzyme deficiency leads to the toxic accumulation of sulfatides, causing progressive demyelination (damage …

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