Research Summaries December 2025
ALEX TLC (Alex, The Leukodystrophy Charity) produces monthly research summaries highlighting recent leukodystrophy research and…
ULF Awards $33,000 Research Grant to Advance Gene Therapy for H-ABC
The United Leukodystrophy Foundation (ULF) is proud to announce the award of a $33,000 research…
Research Summaries October 2025
ALEX TLC (Alex, The Leukodystrophy Charity) produces monthly research summaries highlighting recent leukodystrophy research and…
New Research: Endogenous Repair in Vanishing White Matter
A newly published article, “Endogenous Repair in Vanishing White Matter” explores how the brain may…
The Hidden Impact of Vanishing White Matter (VWM) on Families
New Research Sheds Light on the Burden for Parents, Siblings, and Partners A groundbreaking international…
The Translational Landscape of Reactive Astrocytes Reveals the Impact of eIF2B-mediated Dysregulation in VWM Disease
Understanding Vanishing White Matter Disease Through Astrocyte Translation Regulation This study investigates the molecular underpinnings…
Atypical Presentation of MLD Without White Matter Changes
Atypical Presentation of Metachromatic Leukodystrophy (MLD) Without White Matter Changes A recent case study published…
STUDY: Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism
Understanding CSF1R-Related Leukodystrophy and a Potential New Treatment: Iluzanebart This study titled Rescue of in…
FDA Approves First Treatment for CTX, a Rare Lipid Storage Disease
PRESS RELEASE: FDA Approves First Treatment for Cerebrotendinous Xanthomatosis, a Rare Lipid Storage Disease The…
STUDY: The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
Understanding TUBB4A-Related Leukodystrophy in Children: A Study on Disease Progression and Symptoms This study titled…
Study: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes
Research Summary: Impaired Peroxisomal Beta-Oxidation in Microglia Triggers Oxidative Stress and Impacts Neurons and Oligodendrocytes…
Study: Progression of Spinal Cord Disease in Adult Men With ALD
The article, Progression of Spinal Cord Disease in Adult Men with Adrenoleukodystrophy, details the results…
Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile MLD: a long-term follow-up pilot study
The study “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a…
Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease
The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of…
Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review
The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and…
A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report
The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous…
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte‐lineage cells established from patients with Sjögren‐Larsson syndrome
The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established…
Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease
The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative…
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy
The study publicshed in the New England Journal of Medicine titled “Hematologic Cancer after Gene…
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study
Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study Overview: The…