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25 results for “Niemann-Pick disease type C”
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C
<p>Abstract:</p> <p>Background: Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination. Niemann-Pick disease Type C1 (NPC1) is a lysosomal storage disorder presenting in childhood with neurological deterioration, liver damage and respiratory infections. Some NPC1 patients develop severe Crohn’s disease. Our objective was to investigate the safety and effectiveness of anti-TNF in NPC1 patients with Crohn’s disease.</p> <p>Methods: Retrospective data on phenotype and therapy response were collected from patients with genetically confirmed NPC1 defects and intestinal inflammation. We investigated TNF secretion in peripheral blood mononuclear cells treated with NPC1 inhibitor in response to bacterial stimuli.</p> <p>Results: NPC1 inhibitor treated PBMCs show significantly increased TNF production after lipopolysaccharide or bacterial challenge providing a rationale for anti-TNF therapy. We identified 5 NPC1 patients with CD-like intestinal inflammation treated using anti-TNF therapy (mean age of onset 8.6 years, mean treatment length 27.2 months, overall treatment period 11.3 patient years). Anti-TNF therapy was associated with reduced gastrointestinal symptoms with no apparent adverse neurological events. Therapy improved intestinal inflammation in 4 patients.</p> <p>Conclusion: Anti-TNF therapy appears safe in patients with NPC1 and is an effective treatment strategy for the management of intestinal inflammation in these patients.</p>
Supplementary data for: Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signalling in a Model of Niemann-Pick Disease Type C
<p>Supplementary example data for the work presented in "<em>Graphene Microelectrode Arrays, 4D Structured Illumination Microscopy, and a Machine Learning Spike Sorting Algorithm Permit the Analysis of Ultrastructural Neuronal Changes During Neuronal Signalling in a Model of Niemann-Pick Disease Type C</em>". </p> <p><strong>Abstract: </strong></p> <p>Simultaneously recording network activity and ultrastructural changes of the synapse is essential for advancing our understanding of the basis of neuronal functions. However, the rapid millisecond-scale fluctuations in neuronal activity and the subtle sub-diffraction resolution changes of synaptic morphology pose significant challenges to this endeavour. Here, we use specially designed graphene microelectrode arrays (G-MEAs), which are compatible with high spatial resolution imaging across various scales as well as permit high temporal resolution electrophysiological recordings to address these challenges. Furthermore, alongside G-MEAs, we have developed an easy-to-implement machine learning algorithm to efficiently process the large datasets collected from MEA recordings. We demonstrate that the combined use of G-MEAs, machine learning (ML) spike analysis, and four-dimensional (4D) structured illumination microscopy (SIM) enables monitoring the impact of disease progression on hippocampal neurons which have been treated with an intracellular cholesterol transport inhibitor mimicking Niemann-Pick disease type C (NPC), and show that synaptic boutons, compared to untreated controls, significantly increase in size, leading to a loss in neuronal signalling capacity.</p> <p> </p>
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine
ClinicalTrials.gov study NCT00975689. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Study of IV VTS-270 for Infantile Liver Disease Associated With Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT03471143. IPD Sharing: NO. Countries: 1. Publications: 1.
N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)
ClinicalTrials.gov study NCT03759639. IPD Sharing: Not stated. Countries: 5. Publications: 3.
Arimoclomol Prospective Study in Participants Diagnosed With Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT02612129. IPD Sharing: Not stated. Countries: 9. Publications: 2.
Screening of Niemann-Pick Disease, Type C in a Psychiatric Population
ClinicalTrials.gov study NCT02841358. IPD Sharing: Not stated. Countries: 1. Publications: 18.
A Pivotal Study of N-Acetyl-L-Leucine on Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT05163288. IPD Sharing: NO. Countries: 8. Publications: 5.
Saccadic Eye Movements in Patients With Niemann-Pick Type C Disease
ClinicalTrials.gov study NCT00316498. IPD Sharing: Not stated. Countries: 2. Publications: 1.
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT02435030. IPD Sharing: Not stated. Countries: 8. Publications: 1.
Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT00344331. IPD Sharing: NO. Countries: 1. Publications: 5.
Open-Label Study of Long-Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann-Pick Disease Type C
ClinicalTrials.gov study NCT03893071. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT05588167. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease (NPC)
ClinicalTrials.gov study NCT07082725. IPD Sharing: NO. Countries: 13. Publications: 0.
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
ClinicalTrials.gov study NCT07054515. IPD Sharing: NO. Countries: 15. Publications: 0.
Phase 2 Study Evaluating the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients with GM2 Gangliosidosis or Niemann-Pick Type C Disease
ClinicalTrials.gov study NCT05758922. IPD Sharing: NO. Countries: 1. Publications: 0.
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
ClinicalTrials.gov study NCT07399704. IPD Sharing: NO. Countries: 1. Publications: 0.
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
ClinicalTrials.gov study NCT01899950. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Human iNSC-derived brain organoid model of lysosomal storage disorder in Niemann-Pick disease type C
GEO Series GSE157676. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
A disease similarity approach identifies short-lived Niemann-Pick type C disease mice with accelerated brain aging as a novel mouse model for Alzheimer’s disease and aging research
GEO Series GSE266485. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
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