The article, Progression of Spinal Cord Disease in Adult Men with Adrenoleukodystrophy, details the results of a long-term study on the progression of spinal cord disease in adult men with ALD. The study, which followed 79 patients over seven years, used clinical tools like the EDSS, SSPROM, and 6MWT to measure disease progression. It showed …
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The study “Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study” investigates a pioneering treatment for juvenile metachromatic leukodystrophy (MLD), a rare, inherited neurological disorder caused by a deficiency in the ARSA enzyme. This enzyme deficiency leads to the toxic accumulation of sulfatides, causing progressive demyelination (damage …
The article “Analysis of GFAP Variants in UK Biobank Suggests Underdiagnosis or Incomplete Penetrance of Adult-Onset Alexander Disease” investigates the prevalence and clinical significance of mutations in the GFAP gene, which are linked to Alexander disease. This rare neurodegenerative disorder affects the white matter of the central nervous system, leading to a progressive decline in …
The article “Vanishing White Matter Disease in Children: An Unusual Association, a Novel Mutation, and a Literature Review” explores Vanishing White Matter Disease (VWMD), a rare genetic disorder that affects the brain’s white matter. This study presents a case involving a novel genetic mutation, contributing to the understanding of the disease’s complexity. VWMD is caused …
The article “A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report” describes a rare genetic mutation linked to metachromatic leukodystrophy (MLD), a devastating lysosomal storage disorder. Here’s an explanation of the study and its significance: What is Metachromatic Leukodystrophy (MLD)? MLD is a genetic …
The study “Accumulation of Ether Phospholipids in Induced Pluripotent Stem Cells and Oligodendrocyte-Lineage Cells Established from Patients with Sjögren-Larsson Syndrome” investigates a rare genetic disorder called Sjögren-Larsson Syndrome (SLS) using advanced stem cell techniques. Here’s a simpler explanation of what the researchers did and found: What is Sjögren-Larsson Syndrome? SLS is a condition caused by …
The article, “Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease”, explores innovative in vitro methods to study Krabbe disease (KD), a severe lysosomal storage disorder. Using induced pluripotent stem cells (iPSCs), the research develops human-based models that replicate key aspects of the disease, providing insights into its mechanisms and potential therapeutic approaches. …
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The study publicshed in the New England Journal of Medicine titled “Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy” investigates the long-term safety of the gene therapy elivaldogene autotemcel (eli-cel) in patients with cerebral adrenoleukodystrophy (CALD). The therapy modifies patients’ own blood-forming stem cells to include a functional gene to manage CALD. However, 7 of …
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Experiences of mothers of long-term surviving patients with cerebral adrenoleukodystrophy: a qualitative study Overview: The study focuses on the lived experiences of mothers caring for long-term survivors of cerebral adrenoleukodystrophy (CALD), a rare genetic disorder affecting the nervous system. It employs qualitative research methods, including in-depth interviews with mothers, to gather rich, personal insights. Key …
Gene therapy shows long-term benefit for patients with Cerebral adrenoleukodystrophy (CALD) Overview: In a study published in The New England Journal of Medicine, lentiviral gene therapy using elivaldogene autotemcel (eli-cel) showed promising results in treating cerebral adrenoleukodystrophy (CALD) in boys. Over a 24-month period, 91% of participants survived without major functional disabilities, and 94% showed …
