Our research summaries

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 – March 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 […]

Mitochondrial disease https://cdn.prod.website-files.com/6324f3c1cd40a857e0ea27a4/69780ca6e83119ff5fad40f1_TTI%20NR%20260123%20Thio%20-%20MELAS%20Mitocon%20Prst%20.pdf

GM1 and GM2 gangliosidoses https://www.azafaros.com/news/azafaros-announces-key-scientific-oral-and-poster-presentations-on-nizubaglustat-accepted-for-worldsymposium-2026/l261c14?_gl=1*c081jt*_up*MQ..*_ga*MTAxODA4NjIwNy4xNzcxNDQwOTQ0*_ga_TSKRP1W66D*czE3NzE0NDA5NDMkbzEkZzAkdDE3NzE0NDA5NDMkajYwJGwwJGgyMDM0NDM4Njgx

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mds.70192 Colony-stimulating factor 1 receptor–related disorder (CSF1R‑RD) is a rare and fast‑progressing brain disease caused by harmful changes in the CSF1R gene. People with this condition can develop a wide range of symptoms, including movement problems, cognitive decline, and behavioural changes. Symptoms usually begin in the […]

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://onlinelibrary.wiley.com/doi/10.1002/acn3.70250 Colony-stimulating factor 1 receptor–related disorder (CSF1R-RD) is a rare inherited neurodegenerative disease caused by changes in the CSF1R gene, which is essential for the health of microglia. People with CSF1R-RD typically develop progressive problems with thinking, behaviour, and movement in mid-adulthood, and the disease advances […]

Alexander Disease https://www.sciencedirect.com/science/article/pii/S109671922500681X?via%3Dihub#ab0005 Alexander disease is a rare, progressive neurological condition caused by changes, known as variants, in the GFAP gene. This gene provides instructions for making glial fibrillary acidic protein (GFAP), a key structural protein in astrocytes, which are support cells in the brain. When GFAP is altered, it can form abnormal clumps called […]

Adrenoleukodystrophy (ALD) https://www.mdpi.com/1422-0067/26/23/11645 X-linked adrenoleukodystrophy (X‑ALD) is a genetic condition caused by faults in the ABCD1 gene. Importantly, the type of mutation does not predict which form of the disease a person will develop. Current treatments are limited — stem cell transplantation only helps early cerebral ALD, and existing gene therapy approaches carry risks and […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC12781523 Adrenoleukodystrophy (ALD) is a rare, inherited condition caused by changes in the ABCD1 gene that leads to a build-up of very long chain fatty acids that damage the brain, spinal cord, and adrenal glands. Although ALD is often discussed in children, many adults, including both men and women, live for decades with […]

Krabbe Disease https://investors.polaryx.com/pr/polaryx-announces-key-preclinical-data-related-to-soteria-at-the-22nd-annual-worldsymposium Polaryx presented key pre-clinical data for PLX-200 their reformulated gemfibrozil drug in a Krabbe mouse model where it was found to reduce astrogliosis and neuro-inflammation, protect myelin, and reduce psychosine accumulation. Importantly, it also restored motor functions and increased lifespan in the Krabbe mice. These are encouraging results as later this year […]

Aicardi Goutières Syndrome (AGS) https://www.immunesensor.com/news/021226 ImmuneSensor Therapeutics recently successfully completed a control Phase 1a study in healthy volunteers to evaluate the safety, tolerability, pharmacokinetics (what the body does to the drug) and pharmacodynamics (what the drug does to the body) of their product IMSB301 a novel, potentially best-in-class, orally available small molecule cGAS inhibitor. It […]

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 – February 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 […]

Leukodystrophies https://pmc.ncbi.nlm.nih.gov/articles/PMC12592965 Developing new treatments for rare diseases is difficult because there are often very few patients and limited clinical data. This makes it challenging for healthcare decision-makers to judge whether new medicines are effective and represent good value for money. In these situations, the knowledge and experience of clinical experts, such as specialist doctors […]