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L-2-hydroxyglutaric aciduria https://www.nature.com/articles/s41586-026-10564-x This study shows that L‑2‑hydroxyglutarate (L‑2‑HG), a molecule long believed to be only a toxic by‑product plays an important and normal signalling role inside cells. Under healthy conditions, L‑2‑HG is kept at very low levels because a mitochondrial enzyme called L2HGDH rapidly converts it back into another molecule, 2‑oxoglutarate. When this enzyme […]

GM1 gangliosidosis and GM2 gangliosidosis https://www.azafaros.com/news-media/azafaros-announces-publication-of-phase-2-rainbow-study-data-for-nizubaglustat-in-molecular-genetics-and-metabolism-journal/l275c14.

Krabbe Disease https://link.springer.com/article/10.1186/s13073-026-01620-2 Krabbe disease (KD) is a rare inherited neurological disorder caused by mutations in the GALC gene. These mutations prevent the body from producing enough GALC enzyme, leading to the accumulation of a toxic substance called psychosine. As psychosine builds up, it damages myelin, causing severe neurological decline, and loss of motor function. […]

GM2 gangliosidosis https://www.sciencedirect.com/science/article/pii/S2666379126001795 GM2 gangliosidosis, which includes Tay‑Sachs and Sandhoff disease, is a severe inherited condition where the brain cannot break down a fatty substance called GM2 ganglioside. As GM2 builds up, it damages nerve cells and leads to progressive neurological decline. There are currently no approved treatments that can stop or reverse the disease. […]

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://journals.viamedica.pl/neurologia_neurochirurgia_polska/article/view/111875/89457 CSF1R‑related leukoencephalopathy is a rare, inherited brain disease that causes progressive damage to the white matter. It usually begins in adulthood and leads to changes in behaviour, thinking, movement, and balance. The condition is caused by harmful variants in the CSF1R gene, which affect how […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC12893433 Adrenoleukodystrophy (ALD) is a rare inherited condition that affects the nervous system. In many boys and men with ALD, a serious form called cerebral adrenoleukodystrophy (CALD) can develop, causing rapid damage to the brain. Without treatment, CALD can lead to severe disability or loss of life within a few years. However, treatments […]

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 – June 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 Research […]

GM1 gangliosidosis and GM2 gangliosidosis https://investors.polaryx.com/pr/polaryx-therapeutics-to-participate-in-national-taysachs-allied-diseases-association-annual-family-conference

GM1 gangliosidosis and GM2 gangliosidosis https://www.azafaros.com/news-media/podcast-stefano-portolano-on-nizubaglustat-and-the-future-of-rare-disease-treatment/l274c14

Leigh syndrome https://www.nature.com/articles/s41467-026-71391-2 Children with Leigh syndrome, a progressive genetic neurological disorder, often experience developmental regression, movement problems, brain damage, and early loss of life as their cells cannot produce energy properly. To study the disease, the authors of this study used stem cells from patients to grow brain organoids. These organoids reproduced key features […]

Adrenoleukodystrophy (ALD) https://onlinelibrary.wiley.com/doi/10.1002/cns3.70064 This study examines how brain MRI scans may help doctors detect X-linked adrenoleukodystrophy (ALD) earlier in both children and adults. ALD is a rare inherited disorder that damages the brain and nervous system because harmful fatty substances build up in the body. Some forms of ALD can progress rapidly, therefore early diagnosis […]

Adrenoleukodystrophy (ALD) https://www.neurology.org/doi/10.1212/WN9.0000000000000096 Adrenoleukodystrophy (ALD) is a rare inherited condition that can damage the brain and nervous system. In some adults with ALD, inflammation in the brain can develop suddenly and progress quickly, leading to severe disability or loss of life if not identified early. Regular MRI brain scans are recommended as they can detect […]