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 Analyst Kristina Backlund MMSc. The National Lottery Community Fund and Ionis Pharmaceuticals, Inc have contributed to the funding of the Research Analyst role.
Alex TLC assumes no responsibility or liability for any errors or omissions in the content of these summaries. The information contained in the research summaries is provided on an “as is” basis with no guarantees of completeness, accuracy, usefulness, or timeliness. If you are unsure of any of the details within the summaries, please refer to the actual articles or contact info@alextlc.org
We have developed a database of research summaries that include leukodystrophy articles, clinical trials and pharmaceutical press releases to allow our community to easily read about relevant recent research developments.
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GM2 gangliosidosis and Krabbe disease https://investors.polaryx.com/pr/polaryx-therapeutics-advances-operational-readiness-for-soteria-phase-2-basket-trial Polaryx Therapeutics is finishing getting ready for the start of the SOTERIA Phase 2 basket trial which they aim to initiate in the fourth quarter of 2026. SOTERIA is a Phase 2, open-label, single arm trial where all participants receive the same drug. It is designed to evaluate the […]
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. […]
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 […]
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 […]
Krabbe Disease https://www.mdpi.com/2227-9059/13/12/3114 Krabbe disease is a rare inherited disorder that damages the nervous system by disrupting myelin, the protective coating around nerve fibres. It is caused by faults in the GALC gene, which normally produces the lysosomal enzyme galactosylceramidase. When this enzyme does not function as normal, toxic lipids accumulate, and progressive neurological symptoms […]
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 […]
Krabbe Disease https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awaf150/8123348 Krabbe disease (KD) is a genetic disorder caused by mutations in the GALC gene and characterised by the accumulation of certain lipids in the brain including β-galactosylceramide, β-lactosylceramide (LacCer), and the neurotoxic metabolite β-galactosylsphingosine (psychosine). The build-up of psychosine is currently thought to be the main cause of the symptoms of KD. […]
Krabbe Disease https://www.cell.com/immunity/abstract/S1074-7613(25)00138-4 Globoid Cell Leukodystrophy (GLD) or Krabbe disease is a progressive neurodegenerative disease caused by a faulty GALC gene. Key disease hallmarks are the aggregation of the brain’s immune cells, called microglia, into globoid cells (GC) and the build-up of a toxic substance called psychosine. In this article, researchers used a mouse model […]
Krabbe Disease https://www.cell.com/molecular-cell/abstract/S1097-2765(25)00201-1 Lysosomes are vital components of our cells that act like recycling centres to break down and reuse cellular waste. When lysosomes are damaged or not working properly, toxic materials can build up, resulting in a group of rare but serious conditions known as lysosomal storage disorders (LSDs), many of which affect the […]
