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How reliable the measure is in the same person when repeated over time; how well the procedure measures disease progression or severity; and how many research subjects are required to determine whether an intervention is delaying or slowing the onset of HD? Aim 2: To analyze the psychometric properties of various biomarkers obtained from cerebral spinal fluid when compared to groups with the pre-manifest HD, NC, and NC groups over time baseline and two years. The investigators expect that the candidate biomarkers would exhibit appropriate affiliation with the Unified HD Rating Scale in diagnosed and advanced prodromal HD, with the most common "benchmarks" of HD phenotype, the Unified HD Rating Scale in diagnosed and advanced prodromal HD. Although it is unknown if the biomarkers will establish any predictive validity or concurrent validity for the entire premanifest HD group, the biomarker will be detectable and tracked over time. Although it is uncertain whether the biomarkers will achieve any predictive value or concurrent validity for the entire premanifest HD group, it will be useful to establish an evidence threshold for when in the premanifest HD prodrome.
Source link: https://clinicaltrials.gov/ct2/show/NCT04818060
The proposed study aims to explore if an association exists between information about HD and psychological adaptation to HD, as well as children and families. HD is thought to be one of the conditions most commonly involved in cases of nondisclosure of genetic risk. An cross-sectional survey will be used to 1 investigate individuals' patterns of disclosure about HD and 2 assess emotional adaptation to HD. Participants from HD clinics, HD support groups, HD blogs, and HD online mailing listservs will be recruited from HD clinics, HD support groups, HD television networks, and HD online mailing listservs.
Source link: https://clinicaltrials.gov/ct2/show/NCT00491842
During face-to-face and non-contact visits, a neurologist will perform an investigation into the safety and tolerability of the combined oral thiamine and biotin therapy in patients with HD. The determination of thiamine monophosphate levels in cerebrospinal fluid of patients with HD will be completed by: The evaluation of the clinical safety of combined oral thiamine and biotin therapy will be done by: The determination of thiamine monophosphate levels in CSF and blood of patients with HD is expected to be carried out by: The determination of thiamine monophosphate levels: free thiamine, TMP, and thiamine pyrophosphate increases is set to Neurodegeneration caused by HD's combined oral thiamine and oral biotin therapy will be assessed by the end of the therapy. We based our estimates on the estimated CSF thiamine levels between HD patients and healthy subjects to determine secondary and exploratory goals. An electronic data collection notebook would help with the study's demographic data analysis as well as the information related to all the variables that were considered during the research. With age, sex, CAG repetitions, and disease severity as the covariates, we will investigate the connection between disease and CSF thiamine among HD patients by fitting a linear mixed model for each clinical study.
Source link: https://clinicaltrials.gov/ct2/show/NCT04478734
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