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49 results for “Charcot-Marie-Tooth”
CMT1A-BioStampNPoint2023: Charcot-Marie-Tooth disease type 1A accelerometry dataset from three wearable sensor study
<p>The CMT1A-BioStampNPoint2023 dataset provides data from a wearable sensor accelerometry study conducted for studying gait, balance, and activity in 15 individuals with Charcot-Marie-Tooth disease Type 1A (CMT1A). In addition to individuals with CMT1A, the dataset also includes data for 15 controls that also went through the same in-clinic study protocol as the CMT1A participants with a substantial fraction (9) of the controls also participating in the in-home study protocol. For the CMT1A participants, data is provided for 15 participants for the baseline visit and associated home recording duration and, additionally, for a subset of 12 of these participants data is also provided for a 12-month longitudinal visit and associated home recording duration. For controls, no longitudinal data is provided as none was recorded. The data were acquired using lightweight MC 10 BioStamp NPoint sensors (MC 10 Inc, Lexington, MA), three of which were attached to each participant for gathering data over a roughly one day interval. For additional details, see the description in the "README.md" included with the dataset.</p>
Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
ClinicalTrials.gov study NCT03124459. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
ClinicalTrials.gov study NCT01401257. IPD Sharing: NO. Countries: 1. Publications: 1.
The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
ClinicalTrials.gov study NCT05361031. IPD Sharing: NO. Countries: 1. Publications: 0.
CMT1A-BioStampNPoint2023: Charcot-Marie-Tooth disease type 1A accelerometry dataset from three wearable sensor study
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The Impact of Charcot-Marie-Tooth Disease in the Real World
ClinicalTrials.gov study NCT03782883. IPD Sharing: NO. Countries: 1. Publications: 2.
Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
ClinicalTrials.gov study NCT06482437. IPD Sharing: NO. Countries: 5. Publications: 0.
Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
ClinicalTrials.gov study NCT01289704. IPD Sharing: Not stated. Countries: 1. Publications: 22.
BALTiC Study: A Feasibility Analysis of Home Based BALance Training in People With Charcot-Marie-Tooth Disease
ClinicalTrials.gov study NCT02982343. IPD Sharing: NO. Countries: 1. Publications: 5.
Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
ClinicalTrials.gov study NCT00541164. IPD Sharing: Not stated. Countries: 1. Publications: 8.
Correlation Between Clinical and Electrophysiological Phenotypes in a Population of Patients With Neuropathy Charcot-Marie-Tooth Disease Type 1A
ClinicalTrials.gov study NCT01750710. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Fall Risk Assessment in a Population of Charcot-Marie-Tooth Disease Type 1A (CMT 1A) by Timed Up and Go Test
ClinicalTrials.gov study NCT05142059. IPD Sharing: Not stated. Countries: 1. Publications: 5.
Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
ClinicalTrials.gov study NCT04786522. IPD Sharing: NO. Countries: 1. Publications: 17.
Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
ClinicalTrials.gov study NCT07223632. IPD Sharing: NO. Countries: 1. Publications: 1.
Data from: Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions
Charcot-Marie-Tooth disease encompasses a genetically heterogeneous class of heritable polyneuropathies that result in axonal degeneration in the peripheral nervous system. Charcot-Marie-Tooth type 2D neuropathy (CMT2D) is caused by dominant mutations in glycyl tRNA synthetase (GARS). Mutations in the mouse Gars gene result in a genetically and phenotypically valid animal model of CMT2D. How mutations in GARS lead to peripheral neuropathy remains controversial. To identify putative disease mechanisms, we compared metabolites isolated from the spinal cord of Gars mutant mice and their littermate controls. A profile of altered metabolites that distinguish the affected and unaffected tissue was determined. Ascorbic acid was decreased fourfold in the spinal cord of CMT2D mice, but was not altered in serum. Carnitine and its derivatives were also significantly reduced in spinal cord tissue of mutant mice, whereas glycine was elevated. Dietary supplementation with acetyl-L-carnitine improved gross motor performance of CMT2D mice, but neither acetyl-L-carnitine nor glycine supplementation altered the parameters directly assessing neuropathy. Other metabolite changes suggestive of liver and kidney dysfunction in the CMT2D mice were validated using clinical blood chemistry. These effects were not secondary to the neuromuscular phenotype, as determined by comparison with another, genetically unrelated mouse strain with similar neuromuscular dysfunction. However, these changes do not seem to be causative or consistent metabolites of CMT2D, because they were not observed in a second mouse Gars allele or in serum samples from CMT2D patients. Therefore, the metabolite 'fingerprint' we have identified for CMT2D improves our understanding of cellular biochemical changes associated with GARS mutations, but identification of efficacious treatment strategies and elucidation of the disease mechanism will require additional studies.
Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)
ClinicalTrials.gov study NCT07152197. IPD Sharing: NO. Countries: 1. Publications: 0.
Data from: Clinical Reasoning: Pes cavus and neuropathy: think beyond Charcot-Marie-Tooth disease
Open the record for dataset details and reuse information.
Data from: Metabolite profile of a mouse model of Charcot-Marie-Tooth type 2D neuropathy: implications for disease mechanisms and interventions
Open the record for dataset details and reuse information.
Combined RNAinterfering and gene therapy targeting MFN2 for the treatment of Charcot-Marie-Tooth type 2A
GEO Series GSE201264. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
Activation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B
GEO Series GSE252089. Mus musculus. 16 samples. Type: Expression profiling by high throughput sequencing.
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