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POLR3 related leukodystrophy https://www.cureus.com/articles/399924-polr3b-related-hypomyelinating-leukodystrophy-type-8-4h-syndrome-a-case-series-of-two-siblings#! POLR3B-related hypomyelinating leukodystrophy type 8, also known as 4H syndrome, is a rare inherited disorder caused by mutations in the POLR3B gene, affecting the brain’s ability to form myelin around nerves. This can result in issues with movement, speech, vision, dentition (teeth development) and puberty. This article describes two brothers with […]

Peroxisome Biogenesis Disorder (PBD) also known as Zellweger Spectrum Disorder (ZSD) https://www.jlr.org/article/S0022-2275(25)00031-8/fulltext Peroxisome Biogenesis Disorder also known as Zellweger Spectrum Disorder (ZSD) is a rare inherited condition that causes widespread organ damage, including progressive retinal degeneration leading to vision loss. ZSD is caused by mutations in the PEX genes required for the well-functioning of peroxisomes, […]

Leukodystrophies https://academic.oup.com/jpepsy/advance-article/doi/10.1093/jpepsy/jsaf072/8240697?rss=1 Leukodystrophies are rare, inherited brain disorders that damage the white matter of the nervous system. They often lead to serious physical and cognitive disabilities in children, such as problems with movement, communication, and learning. Because these conditions are usually progressive and require constant care, they can deeply affect the well-being of parents and […]

GM2 Gangliosidosis also known as Tay-Sachs disease https://www.jci.org/articles/view/183434 GM2 Gangliosidosis also known as Tay-Sachs disease is a rare hereditary brain disorder caused by a defect in the HEXA gene, which prevents cells from breaking down a fatty substance called GM2 ganglioside. This buildup damages nerve cells and leads to progressive loss of movement and mental […]

CLCN2-related Leukoencephalopathy https://www.nature.com/articles/s41380-025-03159-x Leukoencephalopathies are a group of disorders where the myelin surrounding nerves is lost or damaged. Myelin production and repair depend on the maturation of oligodendrocytes. Why these cells fail to develop properly in certain conditions is still poorly understood. The present study focused on the support cells called astrocytes and explored the effects […]

Canavan Disease (CD) https://www.nature.com/articles/s41591-025-03919-w Canavan disease (CD) is a rare inherited neurological disorder caused by mutations in the ASPA gene. When ASPA is missing, a compound called NAA (N-acetylaspartate) builds up and damages oligodendrocytes, the cells that make myelin. This article reports the first-in-human phase 1/2 clinical trial testing a new gene therapy called MYR-101 […]

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) https://biosignaling.biomedcentral.com/articles/10.1186/s12964-025-02362-1 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a rare inherited form of small vessel disease that causes strokes, migraines, and dementia. It is a result of mutations in the gene NOTCH3, which provides instructions for a receptor protein found on […]

Adult Polyglucosan Body Disease (APBD) https://academic.oup.com/nar/article/53/13/gkaf658/8203452 Adult polyglucosan body disease (APBD) is a rare, inherited neurological disorder that typically begins in adulthood and causes progressive problems with walking, bladder control, and fatigue. APBD is caused by mutations in the GBE1 gene, which encodes the glycogen branching enzyme. When this enzyme does not function properly, abnormal […]

Alexander disease (AxD) https://ir.ionis.com/news-releases/news-release-details/ionis-announces-positive-topline-results-pivotal-study Ionis have shared results from their study of Zilganersen in children and adults with Alexander Disease. Zilganersen demonstrated statistically significant and clinically meaningful stabilisation on the primary endpoint of gait speed as assessed by the 10-Meter Walk Test (10MWT) compared to the control group with favourable safety and tolerability. It also showed […]

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 – October 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 […]

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 – September 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 […]

Canavan Disease https://myrtellegtx.com/myrtelle-announces-nature-medicine-publication-of-interim-results-from-its-phase-1-2-clinical-trial-of-investigational-gene-therapy-raav-olig001-aspa-for-canavan-disease/