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https://pmc.ncbi.nlm.nih.gov/articles/PMC12101386 Metachromatic leukodystrophy (MLD) is a rare genetic disease characterised by the absence of the arylsulfatase A (ARSA) enzyme. This deficiency leads to the build-up of harmful substances called sulfatides. Early diagnosis is essential as the currently available treatments are only effective before symptoms appear – gene therapy (arsa-cel) for early-onset and hematopoietic stem cell […]

Leigh syndrome https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0324268&utm_source=emailoctopus&utm_medium=email&utm_campaign=June%202025 Leigh syndrome is a severe childhood-onset brain disorder caused by mitochondrial dysfunction, when the cell’s energy factories stop working properly. It leads to progressive neurological symptoms such as movement problems, muscle weakness, and breathing difficulties, often resulting in early death. Inflammation in the brain is a hallmark feature, and researchers have been […]

Alexander Disease https://pn.bmj.com/content/early/2025/05/10/pn-2024-004490.long Alexander disease (AxD) is a rare genetic disorder caused by mutations in the GFAP gene. It is traditionally classified into infantile, juvenile and adult forms. While early-onset cases are often severe, adult-onset AxD is very diverse in how it presents and can be mistaken for other conditions such as multiple sclerosis. In […]

Adrenoleukodystrophy (ALD) https://www.mdpi.com/2409-515X/11/3/53 X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder that mainly affects boys. It can cause adrenal insufficiency and may result in a brain disease called childhood cerebral ALD (ccALD), which can lead to severe disability or fatality if not treated early. ALD is caused by mutations in the ABCD1 gene, which prevents […]

Adrenoleukodystrophy (ALD) https://www.sciencedirect.com/science/article/pii/S258953702500197X?via%3Dihub Cerebral adrenoleukodystrophy (cALD) is a rare, genetic, and life-threatening brain disorder that can affect young boys. It causes damage to the brain’s white matter, leading to rapid neurological decline. The current treatment, haematopoietic stem cell transplantation (HSCT), can be effective but is high-risk, not widely available, and often delayed. While allogeneic (cells […]

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 – July 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 […]

Leukodystrophies https://alextlc.org/news/screen4care-project/ Screen4Care has launched a recruitment for newborn screening in Ferrara, Italy and in Dijon, France – the conditions include Cerebrotendinous Xanthomatosis (CTX), Leigh Syndrome, Metachromatic Leukodystrophy (MLD), Krabbe Disease, and Mitochondrial Diseases. The Screen4Care project is an innovative research initiative by a European consortium, led by the University of Ferrara and Pfizer, aimed […]

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) https://www.synaptixbio.com/post/synaptixbio-reaches-hugely-significant-milestone-with-selection-of-candidate-drug-for-clinical-trial

Canavan Disease https://myrtellegtx.com/myrtelle-launches-commercial-stage-manufacturing-of-first-in-class-gene-therapy-for-canavan-disease/

Mucolipidosis type IV https://www.cell.com/molecular-therapy-family/methods/fulltext/S2329-0501(25)00074-9 Mucolipidosis Type IV (MLIV) is a rare genetic disease that affects brain function, movement, and vision. While new therapies are being developed, the field lacks a molecular signature (biomarker) of the disease that can help monitor disease severity and treatment effects. This study looked at blood proteins in 17 individuals with […]

Mitochondrial Disease https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-025-01467-z Mitochondrial and rare diseases are challenging to diagnose. Genetic testing does not always allow a definitive diagnosis, especially when unknown variants are found. This study introduces an untargeted, protein-based approach (proteomics) to help validate the pathogenicity (ability of gene to cause disease) of certain genetic variants in a timely manner. They first […]

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) https://pmc.ncbi.nlm.nih.gov/articles/PMC11997501 Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder caused by mutations in the MLC1 gene. It leads to abnormal fluid accumulation (brain oedema), enlarged brain size (megalencephaly), white matter abnormalities, and progressive motor dysfunction. The disease primarily affects astrocytes, which are supportive cells in the […]