ALEX TLC (Alex, The Leukodystrophy Charity) produces monthly research summaries highlighting recent leukodystrophy research and clinical trials, with a focus on key findings and advancements in treatment.
These summaries are prepared by volunteer Biomedical Science students, who provide their interpretations of the latest studies and findings — helping make complex research more accessible to the community.
October 2025 Research Summary is now available, offering updates on current studies, publications, and global research efforts!
Alex TLC’s October 2025 Summaries include:
Clinical Trial Updates
- Alexander Disease (AxD): Ionis Pharmaceuticals reported positive results from a pivotal study of Zilganersen, showing significant stabilization in gait speed and evidence of slowed disease progression in children and adults with AxD. The treatment demonstrated favorable safety and tolerability.
Research Summaries
- Adult Polyglucosan Body Disease (APBD): A study utilized splice-modulating antisense oligonucleotides (ASOs) to correct a pathogenic intronic variant in the GBE1 gene, restoring enzyme activity in patient-derived cells to approximately 75% of normal levels. This offers a potential mutation-specific treatment for APBD.
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL): Research revealed that NOTCH3 mutations lead to different activation mechanisms, affecting how the protein functions and potentially guiding targeted treatments to prevent vascular damage.
- Canavan Disease (CD): A phase 1/2 trial of MYR-101 gene therapy showed safety and efficacy in children, with reduced toxic NAA levels and improved myelin formation, indicating a promising approach to altering the disease’s course.
- CLCN2-related Leukoencephalopathy: A study identified that astrocytic ClC-2 protein is crucial for myelin repair, with strategies to inhibit the SPP1/CD44 signaling pathway showing potential for restoring myelin growth.
- GM2 Gangliosidosis (Tay-Sachs Disease): Researchers demonstrated that base editing could correct the HEXA mutation in mice, leading to reduced GM2 accumulation and improved health outcomes, suggesting a potential one-time treatment for late-onset Tay-Sachs.
- Impact on Parents: A survey of parents caring for children with leukodystrophies revealed significant stress and caregiver burden, emphasizing the need for family-centered healthcare and support systems to improve overall well-being.
- Peroxisome Biogenesis Disorder (Zellweger Spectrum Disorder): A study in a mouse model showed early lipid dysregulation in retinal cells, indicating potential biomarkers for monitoring disease progression and targets for therapeutic intervention.
- POLR3B-related Hypomyelinating Leukodystrophy (4H Syndrome): A case series highlighted the variability in symptoms among siblings with the same genetic mutation, underscoring the need for a multidisciplinary approach to management.
Concise Articles
- Canavan Disease: Myrtelle announced encouraging interim results from its gene therapy trial at a recent conference.
- Rare Therapeutics: GEMMABio launched a new initiative to develop gene therapies for ultra-orphan diseases, including GM1 gangliosidosis, Krabbe disease, and Metachromatic Leukodystrophy.
*The United Leukodystrophy Foundation is not liable for any inaccuracies or gaps in these overviews , which are offered “as is” without assurances on completeness, accuracy, or timeliness. For verification or detailed information, please consult the original articles directly.
As a leukodystrophy related nonprofit, the ULF provides awareness to scientific literature. Inclusion on our website does not imply endorsement of, or agreement with, the contents by the ULF.