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.
December 2025 Research Summary is now available, offering updates on current studies, publications, and global research efforts!
Alex TLC’s December 2025 Summaries include:
Clinical Trial Updates
- Alexander Disease (AxD): Ionis Pharmaceuticals received FDA Breakthrough Therapy designation for zilganersen, reflecting strong early evidence and the potential to accelerate treatment development for AxD.
- Metachromatic Leukodystrophy (MLD): MLD was officially added to the U.S. Recommended Uniform Screening Panel (RUSP), marking a major milestone that will enable earlier diagnosis and access to life-saving interventions.
Research Summaries
- CADASIL: A large international study found that blood levels of the NOTCH3 extracellular domain are not reliable biomarkers for diagnosis or disease monitoring, underscoring the continued need for imaging and genetic testing while offering insight into age-related disease biology.
- H-ABC (TUBB4A-related leukodystrophy): New cellular research demonstrated how disease-causing TUBB4A mutations disrupt oligodendrocyte development and myelin formation, helping explain disease pathology and identifying potential molecular targets for future therapies.
- Krabbe Disease & Newborn Screening: A psychosocial study revealed that positive newborn screening results can cause lasting anxiety for some families, even when children are ultimately healthy. The findings highlight the importance of clear communication, genetic counseling, and minimizing false positives.
- Leukodystrophies & Psychiatry: A large scoping review showed that many leukodystrophies first present with psychiatric symptoms, leading to diagnostic delays averaging nearly a decade. Earlier genetic testing and collaboration between psychiatry and genetics could significantly improve outcomes and reduce healthcare burden.
- MLD Gene Therapy (arsa-cel): Long-term follow-up demonstrated that gene therapy can stabilize and improve peripheral nerve function in children with late-infantile MLD, particularly when treatment is initiated early.
- Vanishing White Matter Disease (VWMD): New findings revealed that certain brain regions retain the ability to repair white matter, offering valuable insight into disease variability and potential future strategies to enhance endogenous repair.
Overall Takeaway
Together, these studies reflect meaningful progress in treatment development, early diagnosis, and understanding the biological and psychosocial dimensions of leukodystrophies, while reinforcing the importance of newborn screening, early intervention, and multidisciplinary care.
*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.