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Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) https://www.cureus.com/articles/354541-a-very-rare-variant-of-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leucoencephalopathy-cadasil-on-the-gnomad-database-with-variable-phenotypic-expression?score_article=true#! CADASIL is a rare genetic disease caused by mutations in the NOTCH3 gene that affects small blood vessels in the brain, reducing blood flow and leading to ischaemic lesions (damage to the brain tissue). This case study highlights the diagnostic challenges posed by overlapping […]

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) https://www.nature.com/articles/s41598-025-00220-1 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene. It leads to damage of the small arteries in the brain and is a common genetic cause of early-onset strokes, cognitive […]

Alexander Disease https://assets.cureus.com/uploads/case_report/pdf/339159/20250501-228466-xp6kfq.pdf Alexander’s disease is a rare and progressive neurological condition belonging to the leukodystrophy group which affects the white matter in the brain and spinal cord. It is caused by mutations in the GFAP gene, which disrupt the normal function of cells that support the brain’s nerve fibres. Adult-onset Alexander’s disease (type II) […]

Adrenoleukodystrophy (ALD) https://www.nature.com/articles/s41525-025-00497-1 X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition that affects how the body breaks down very long-chain fatty acids (VLCFAs), leading to a buildup in tissues and potential damage to the brain, adrenal glands, and spinal cord. It is caused by mutations in the ABCD1 gene, located on the X chromosome. This […]

Adrenoleukodystrophy (ALD) Clinical trial update https://www.minoryx.com/media/results_from_nexus_interim_analysis_published_in_eclinicalmedicine

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 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 […]

Krabbe Disease https://chiesirarediseases.com/media/20250611-chiesi-group-enters-into-worldwide-licensing-agreement-with-key2brain-ab-to-advance-blood-brain-barrier-crossing-therap

GM1 gangliosidosis and GM2 gangliosidosis https://www.azafaros.com/news/azafaros-secures-132m-in-oversubscribed-series-b-financing-to-advance-phase-3-clinical-programs-of-innovative-therapies-in-lysosomal-storage-disorders/l211c14

Mitochondrial Disease https://academic.oup.com/brain/article/148/3/896/7877163 This study reports on a Phase 2b clinical trial investigating sonlicromanol, a novel redox-modulating drug, in individuals with mitochondrial disease due to the m.3243A>G variant in mitochondrial DNA. This mutation is associated with a range of symptoms including encephalopathy, fatigue, cognitive impairment, mood disorders, and myopathy, due to defective energy production in […]

Metachromatic Leukodystrophy (MLD) https://www.nejm.org/doi/full/10.1056/NEJMoa2405727?logout=true Metachromatic leukodystrophy (MLD) is a severe lysosomal storage disorder caused by mutations in the ARSA gene, leading to a deficiency of the arylsulfatase A enzyme. The disease is particularly aggressive in early-onset forms, such as late-infantile and early-juvenile MLD. This long-term follow-up study evaluated the safety and efficacy of atidarsagene autotemcel […]

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. […]

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL) https://pmc.ncbi.nlm.nih.gov/articles/PMC12046978 CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic form of cerebral small vessel disease (cSVD) caused by mutations in the NOTCH3 gene. It leads to stroke, white matter damage, and progressive cognitive decline. This study used an advanced […]