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Adrenoleukodystrophy (ALD) https://www.analesdepediatria.org/en-primary-adrenal-insufficiency-case-study-articulo-S2341287924002680 Primary adrenal insufficiency (PAI) is a rare but serious condition where the adrenal glands fail to produce glucocorticoids and/or mineralocorticoids, putting children at risk of life-threatening adrenal crises. This study looked at 29 children with PAI to better understand its causes, symptoms, and treatment, with the goal of improving early diagnosis and […]

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 – March 2025

Cerebrotendinous Xanthomatosis (CTX) https://ir.mirumpharma.com/news-events/News/news-details/2025/Mirums-CTEXLI-chenodiol-Tablets-Receives-FDA-Approval-for-Treatment-of-Cerebrotendinous-Xanthomatosis-CTX/default.aspx

Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP)/CSF1R related leukoencephalopathy https://investors.vigilneuro.com/news-releases/news-release-details/vigil-neuroscience-reports-fourth-quarter-and-full-year-2024 Final analysis from IGNITE Phase 2 clinical trial for ALSP planned for second quarter of 2025. Vigil Neuroscience intend to pursue an accelerated approval pathway for iluzanebart in ALSP and expects to share an update on its progress when the final analysis is reported.

Adrenoleukodystrophy (ALD) https://investor.bluebirdbio.com/news-releases/news-release-details/bluebird-bio-announces-definitive-agreement-be-acquired-carlyle

Leigh Syndrome https://www.cell.com/cell/fulltext/S0092-8674(25)00098-4?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS0092867425000984%3Fshowall%3Dtrue Leigh Syndrome is a rare genetic mitochondrial disease. Mitochondria are the “powerhouse” of cells that uses oxygen to produce energy. However, in mitochondrial disease, there is a mismatch between oxygen delivery and consumption, and too much oxygen can damage cells. In this study, researchers showed that limiting oxygen levels via hypoxia therapy […]

Leigh Syndrome https://www.nature.com/articles/s41586-024-08469-8 Mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), disrupt energy production and lead to severe conditions like Leigh syndrome, affecting the brain and heart, and Leber’s hereditary optic neuropathy (LHON), causing vision loss. Studying these conditions has been challenging due to the lack of precise genetic editing tools and the lack […]

Canavan Disease https://www.liebertpub.com/doi/10.1089/hum.2024.168 Canavan Disease (CD) is characterised by loss-of-function of the ASPA enzyme resulting in high levels of N-acetylaspartate (NAA) and severe developmental impairments in infancy. Two forms have been described: a severe (or atypical) and a milder (or atypical) phenotype differing in the achievement of walking and potentially related to the level of […]

Alexander Disease https://pmc.ncbi.nlm.nih.gov/articles/PMC11770893 Alexander Disease (AxD) is caused by mutations in the gene encoding for the glial fibrillary acidic protein (GFAP), a structural protein mainly expressed in astrocytes, the main support cells for neurons. However, disease mechanisms remain unclear. Since the function of astrocytes is closely related to their physical properties or phenotype, researchers in […]

Adult-onset Autosomal Dominant Leukodystrophy (ADLD) https://www.nature.com/articles/s41467-025-56378-9 Adult-onset Autosomal Dominant Leukodystrophy (ADLD) is a rare genetic disorder caused by an increased expression of the LMNB1 gene, leading to progressive neurological decline. This study aimed to understand the mechanisms that control LMNB1 expression in oligodendrocytes (OLs), the brain cells responsible for producing myelin. By investigating structural variations […]

Adrenoleukodystrophy (ALD) https://www.sciencedirect.com/science/article/pii/S216225312500023X X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that primarily affects the nervous system and adrenal glands and is caused by mutations in the ABCD1 gene. Existing animal models have not fully replicated the disease’s progression in humans, making it difficult to develop effective therapies. To address this, researchers used CRISPR-Cas9 gene-editing […]

Adrenoleukodystrophy (ALD) https://www.neurology.org/doi/10.1212/WNL.0000000000213370?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed This study in the United States highlights the significant burden of adrenoleukodystrophy (ALD) in female individuals, with over 90% experiencing neurological symptoms. The most common symptoms included urinary issues, walking difficulties, and spasticity (abnormal muscle tightness or spasm due to prolonged muscle contraction), with sensory symptoms like neuropathic pain and paresthesia (feelings […]