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10 results for “Krabbe disease”
Data from: Chronic Rapamycin administration via drinking water mitigates the pathological phenotype in a Krabbe disease mouse model through autophagy activation.
<p>ABSTRACT </p><p>Krabbe disease (KD) is a rare disorder caused by a deficiency of the lysosomal enzyme galactosylceramidase (GALC), resulting in the accumulation of the cytotoxic metabolite psychosine (PSY) in the nervous system. This accumulation triggers demyelination and neurodegeneration. Despite ongoing research, the underlying pathogenic mechanisms remain incompletely understood, and there is currently no cure available.</p><p>Previous studies from our lab revealed the presence of autophagy dysfunctions in KD pathogenesis, as evidenced by the presence of p62-tagged protein aggregates in the brains of KD mice and increased p62 levels in the KD sciatic nerve. We also demonstrated that the autophagy inducer Rapamycin (RAPA) can partially restore the wild-type (WT) phenotype in KD primary cells by reducing the number of p62 aggregates.</p><p>In this study, we tested RAPA in the Twitcher (TWI) mouse, a spontaneous KD mouse model. We administered the drug ad libitum via drinking water (15 mg/L) starting from post-natal day (PND) 21-23. We longitudinally monitored the motor performance of the mice through grip strength and rotarod tests, along with various biochemical parameters related to KD pathogenesis (i.e. autophagy markers expression, myelination, astrogliosis, and PSY accumulation).</p><p>Our findings demonstrate that RAPA significantly enhances motor functions at specific treatment time points and reduces astrogliosis in TWI brain, spinal cord, and sciatic nerves. Using western blot and immunohistochemistry, we observed a decrease in p62 aggregates in TWI nervous tissues, which corroborates our earlier in-vitro results. Furthermore, RAPA treatment partially reduces PSY levels in the spinal cord.</p><p>In conclusion, our results support the consideration of RAPA as a supportive therapy for KD. Importantly, as RAPA is already available in pharmaceutical formulations for clinical use, its potential for KD treatment can be promptly evaluated in clinical trials.</p>
Study of Safety, Tolerability and Efficacy of PBKR03 in Pediatric Subjects With Early Infantile Krabbe Disease
ClinicalTrials.gov study NCT04771416. IPD Sharing: NO. Countries: 6. Publications: 2.
Gene Transfer Clinical Trial for Krabbe Disease
ClinicalTrials.gov study NCT04693598. IPD Sharing: NO. Countries: 1. Publications: 2.
Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease
ClinicalTrials.gov study NCT00787865. IPD Sharing: NO. Countries: 1. Publications: 2.
Krabbe Disease Global Patient Registry
ClinicalTrials.gov study NCT02993796. IPD Sharing: YES. Countries: 1. Publications: 2.
Gene Transfer Clinical Trial for Infantile and Late Infantile Krabbe Disease Treated Previously With HSCT
ClinicalTrials.gov study NCT05739643. IPD Sharing: NO. Countries: 1. Publications: 11.
Data from: Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
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Data from: Krabbe disease variant classification using parental blood-based diagnostic RNA-seq
<p>Krabbe disease (KD) is a rare autosomal recessive lysosomal storage disorder (LSD) associated with severe neurodegeneration and high mortality and is one of most prevalent LSDs at a recent estimate of 1 in 12,080 live births. The disease pathogenesis is related to low/undetectable galactocerebrosidase (GALC) activity resulting in an accumulation of a cytotoxic GALC substrate, psychosine (Psy), that leads to diffuse demyelination, psychomotor delays, and high morbidity/mortality across the disease spectrum. <span>Although</span> phenotypic prediction in newborns with a more common, homozygous 30kb deletion and very high Psy levels is straightforward, <u>there is a larger subset of patients identified through newborn screening with missense variants of uncertain significance (VUSs) that present with mildly elevated Psy levels that are difficult to interpret.</u> Functional data for a small set of missense variants support altered GALC trafficking and lysosomal localization in KD compared to a loss of catalytic function; however, there are >130 unclassified <i>GALC</i> VUSs (ClinVar; 73 missense) with no clear prognostic impact and differential onset. We are starting to performed blood-based diagnostic RNAseq (whole transcriptomics) to classify such VUSs. Here in this dataset, we performed blood-based diagnostic RNAseq on a couple to try to classify GALC gene variants in a family with Krabbe Disease (KD) and Phenylketonuria (PKU) clinical history. The single p.T513M variant carried by one of the couple was known to be pathogenic or likely pathogenic variant (ClinVar). Using RNAseq, we identified leaky splicing abnormality of portion of transcripts skipping of GALC exon 14 casuig a frameshift and a premature stop codon allowing us to confirm its classifciation as pathogenic. The single c.442+5G>A GALC variant carried by the other individual did not show any splicing defect suggesting this variant to be likely benign. This shows that blood-based targeted or whole mRNAseq can be perforemd for fater effieicnt diagnostis and varoant classification of GALC gene and confirmation of molecular diagnosis of KD. This dataset also shows that carrier individuals or parental RNAseq can be performed if children peripheral blood or dried blood spots (DBSs) are not available to diagnose and classify GALC variants. This type of usafe of clinical-grade functional omics platforms will enahance rare neurological disease diagnosis. </p>
Biomarker for Krabbe Disease (BioKrabbe)
ClinicalTrials.gov study NCT01425489. IPD Sharing: UNDECIDED. Countries: 4. Publications: 0.
Data from: Krabbe disease variant classification using parental blood-based diagnostic RNA-seq
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International Brain Laboratory public data
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OpenNeuro
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