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Alexander Disease https://alextlc.org/wp-content/uploads/2026/01/Community-Statement-Ionis-Opens-EAP-in-the-US-for-Zilganersen-12.19.25.pdf Ionis has established an Expanded Access Program (EAP) in the United States for people with Alexander Disease to access zilganersen. An Expanded Access Program is a pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product for treatment outside of clinical […]

Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles. To access the summary: Research Summary – January 2026 Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our […]

Vanishing White Matter Disease (VWMD) https://onlinelibrary.wiley.com/doi/10.1002/ana.78083?af=R Vanishing White Matter disease (VWMD) is a rare genetic condition that affects the brain’s white matter and is caused by mutations in the EIF2B genes. Individuals with VWMD present progressive white matter loss but can also experience acute episodes of worsening, often during fever or head trauma. Brain MRI […]

Metachromatic leukodystrophy (MLD) https://academic.oup.com/brain/article-abstract/148/10/3727/8120475?redirectedFrom=fulltext Metachromatic leukodystrophy (MLD) is a rare genetic condition in which the absence of the ARSA enzyme leads to the buildup of harmful substances (sulfatides) in the brain and peripheral nerves. This study investigated whether arsa-cel gene therapy, which corrects the faulty ARSA gene, can slow or improve the peripheral nerve damage […]

Leukodystrophies https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03941-8 Rare genetic diseases are medical conditions caused by changes in a single gene and can affect many parts of the body, including the brain. When these genetic changes disrupt brain function, they may first appear as mental-health symptoms such as anxiety, depression, memory difficulties, or unusual behaviour. Because these symptoms closely resemble common […]

Krabbe Disease https://www.sciencedirect.com/science/article/pii/S1096719225002264 Newborn screening (NBS) helps identify rare conditions soon after birth, including a group of genetic diseases called lysosomal storage disorders (LSDs). A positive NBS result does not always mean a child is ill; it can also indicate carrier status, harmless “pseudodeficiency” variants, or uncertain results that may never lead to symptoms. This […]

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) https://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-025-07537-0 Oligodendrocytes are specialised cells in the brain and spinal cord that create myelin, the protective coating that helps nerve signals travel quickly and reliably. In children with hypomyelinating leukodystrophy type 6 (HLD6), myelin does not form properly, leading to motor difficulties, developmental delays, and […]

Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) https://www.neurology.org/doi/10.1212/NXG.0000000000200321 CADASIL is a rare genetic disease that affects the small blood vessels in the brain and can lead to strokes, migraines and progressive cognitive decline. It is caused by changes in the NOTCH3 gene. The current diagnosis and monitoring of CADASIL rely on brain […]

Metachromatic leukodystrophy (MLD) https://ir.orchard-tx.com/news-releases/news-release-details/orchard-therapeutics-celebrates-addition-metachromatic

Alexander disease (AxD) https://ir.ionis.com/news-releases/news-release-details/ionis-receives-us-fda-breakthrough-therapy-designation

Research summary of recent leukodystrophy research and clinical trials, includes article summaries and direct links to websites and articles. To access the summary: Research Summary – December 2025 Please be aware these summaries are produced voluntarily by Biomedical Science students and are their interpretations of the information and findings. This information is reviewed by our […]

POLR3 related leukodystrophy https://www.sciencedirect.com/science/article/abs/pii/S0887899425002875 TUBB4A-related leukodystrophy (TUBB4A-LD) is a rare inherited white matter disorder characterised by progressive developmental and motor dysfunction influenced by genotype and age of onset. This study aimed to better understand how the disease affects families and identify Clinical Outcome Assessments (COAs) to optimise future clinical trial designs. The cohort included 58 […]