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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 – May 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 […]

Alexander disease (AxD) https://ir.ionis.com/news-releases/news-release-details/ionis-presents-new-data-pivotal-study-zilganersen-alexander

Leigh syndrome https://www.cell.com/cell/fulltext/S0092-8674(26)00230-8?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0092867426002308%3Fshowall%3Dtrue This study presents a novel mitochondrial transplantation approach using mitochondria encapsulated in vesicles derived from red blood cell membranes. Mitochondria are specialised organelles found in all human cells that create energy for your body and cells to function, while vesicles are small cellular structures that can do many things such as transport, […]

Mucolipidosis Type IV https://www.cureus.com/articles/446995-elevated-creatine-kinase-in-mucolipidosis-type-iv-investigating-an-atypical-manifestation-and-its-clinical-complications?score_article=true#! Mucolipidosis type IV (MLIV) is a very rare inherited disorder that affects how cells break down and recycle materials. It is caused by harmful changes in the MCOLN1 gene, which disrupts lysosomal function. Children with MLIV typically show early developmental delay, weak muscle tone, severe vision problems, and gastrointestinal difficulties. This […]

Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL) https://www.neurology.org/doi/10.1212/NXG.0000000000200358 CARASAL is an extremely rare inherited disease that affects the brain’s small blood vessels. It is caused by a single change in the CTSA gene and can resemble the more common condition CADASIL, making diagnosis difficult. This study examined 21 people with CARASAL from three Dutch families and […]

Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) https://www.nature.com/articles/s10038-026-01470-1 Neuronal Intranuclear Inclusion Disease (NIID) is a neurodegenerative disorder caused by GGC repeat expansions in the NOTCH2NLC gene, often presenting with heterogeneous neurological symptoms and white matter changes on MRI. As these features overlap with other leukoencephalopathies, including CADASIL, some NIID cases may be misdiagnosed, particularly when standard […]

Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awag033/8453165 This study examines how CADASIL, a genetic small vessel disease caused by mutations in the NOTCH3 gene, leads to brain dysfunction beyond its primary vascular pathology. While CADASIL is known to impair blood flow in the brain and cause strokes and vascular dementia, the downstream effects on neurons, […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC13009845 X‑linked adrenoleukodystrophy (X‑ALD) is a rare genetic disorder caused by mutations in the ABCD1 gene, which leads to the buildup of very long‑chain fatty acids in the body. The adult-onset form adrenomyeloneuropathy (AMN) is a slowly progressive condition that causes stiffness, weakness, and walking difficulties. Because brain and spinal MRI scans are […]

Krabbe Disease and GM2 Gangliosidosis https://investors.polaryx.com/pr/polaryx-therapeutics-receives-us-fda-fast-track-designations-for-all-four-indications-to-be-evaluated-in-the-soteria-basket-trial Polaryx Therapeutics has been granted Fast Track Designation (FTD) for PLX-200 for the treatment of Krabbe disease, GM2 Gangliosidosis and Juvenile Neuronal Ceroid Lipofuscinosis (JNCL/CLN3 disease). This treatment is being studied in their SOTERIA Phase 2 basket trial. The Fast Track program is a regulatory program that expedites the development and review of drugs intended to treat serious conditions and address unmet medical needs. This will help speed up and make […]

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 – April 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 […]

Pelizaeus-Merzbacher disease https://www.nature.com/articles/s41467-025-68045-0 Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder that damages the brain’s white matter. Children with PMD struggle with movement, muscle control, and development because their brains cannot make healthy myelin, the protective coating that helps nerve signals travel quickly. The disease is caused by mutations in the PLP1 gene, which lead […]

Nasu–Hakola disease also known as Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0343274 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also called Nasu–Hakola disease, is a very rare genetic disorder that affects both the brain and the bones. People with this condition often develop bone cysts, memory loss, personality changes, and eventually severe dementia. Because […]