Latest News

Metachromatic Leukodystrophy (MLD) https://www.jci.org/articles/view/185001 Metachromatic leukodystrophy (MLD) is a rare, inherited neurodegenerative disorder caused by harmful changes in the ARSA gene. This gene normally makes an enzyme called arylsulfatase A (ARSA), which is essential for breaking down fatty molecules known as sulfatides. Without enough ARSA, sulfatides accumulate in the brain, spinal cord, and peripheral nerves. […]

Metachromatic Leukodystrophy (MLD) https://publications.aap.org/pediatrics/article/doi/10.1542/peds.2025-073188/203176/Evidence-Regarding-Metachromatic-Leukodystrophy Metachromatic Leukodystrophy (MLD) is a rare genetic condition that affects about 1 in 100,000 babies. It is caused by changes in the ARSA gene, leading to a malfunctioning enzyme and the build-up of fatty substances called sulfatides. The most severe forms develop in early childhood (late-infantile and early-juvenile forms). If detected […]

Leukodystrophies https://onlinelibrary.wiley.com/doi/10.1111/jnc.70170 The brain and spinal cord have a limited ability to repair themselves, especially with age. For people with neurodegenerative conditions like leukodystrophies, Alzheimer’s, or multiple sclerosis, damage to brain cells or myelin is hard to reverse and current treatments mostly slow or alleviate symptoms but rarely restore function. This article reviews current advancements […]

GM2 Gangliosidosis https://www.nature.com/articles/s41591-025-03822-4#Sec11 Tay–Sachs and Sandhoff diseases are devastating childhood brain disorders caused by a lack of an enzyme called hexosaminidase A (HexA). Without HexA, fatty molecules called GM2 gangliosides build up in the brain and spinal cord, leading to progressive loss of movement, feeding difficulties, seizures, and early death. Currently, there are no effective […]

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) https://www.nature.com/articles/s41439-025-00317-z Cerebral small vessel diseases (CSVDs) are inherited conditions that affect the blood vessels in the brain. They can lead to strokes, walking difficulties, bladder problems, memory loss, and mood or speech changes. Two genes are particularly important: NOTCH3, which when altered causes CADASIL (the […]

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://www.science.org/doi/10.1126/science.adr1015 Link to download full text https://itbr.fudan.edu.cn/system/_content/download.jsp?urltype=news.DownloadAttachUrl&owner=1636857767&wbfileid=4CD58F979F5E0BB8AAB0F21C07C456FE Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare neurological disorder caused by mutations in the CSF1R gene, which impairs microglia, the brain’s resident immune cells. In this study, scientists discovered a new potential way of […]

Adrenoleukodystrophy (ALD) https://pmc.ncbi.nlm.nih.gov/articles/PMC12288336 Newborn screening (NBS) is a blood test offered shortly after birth to detect serious but treatable conditions before symptoms appear. Early diagnosis allows children to access treatment sooner, which can greatly improve their long-term health. In Japan, NBS has recently expanded to include lysosomal storage diseases (LSDs) and adrenoleukodystrophy (ALD). LSDs occur […]

Adrenoleukodystrophy (ALD) https://assets.cureus.com/uploads/case_report/pdf/357382/20250621-191599-3in85f.pdf X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by mutations in the ABCD1 gene. It leads to the build-up of very long-chain fatty acids that damage the brain, spinal cord and adrenal glands (located on top of each kidney). This case report describes 23-year-old identical twin brothers with ALD. Although both […]

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 – August 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 […]

Adrenoleukodystrophy (ALD) https://www.minoryx.com/media/minoryx_receives_a_eur_26.9m_grant_within_the_framework_of_the_european_ipcei_med4cure_project

Adrenoleukodystrophy (ALD) https://www.minoryx.com/media/leriglitazone_maa_submitted_for_treatment_of_cald_has_been_validated_by_ema

Metachromatic Leukodystrophy (MLD) https://pmc.ncbi.nlm.nih.gov/articles/PMC12130617 Metachromatic leukodystrophy (MLD) is a rare genetic disease that affects the brain. The earlier it is diagnosed, before the onset of neurological symptoms, the better the chances of successful treatment. This study examined real-world data to assess diagnostic delays and identify early clinical signs. Researchers analysed large US claims datasets and […]