SNPMiner Trials by Shray Alag


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Report for Mutation G1321A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Association of Uremic Toxins and Sacropenia in Hemodialysis Patients

Background. In advanced chronic kidney disease (CKD), multiple metabolic and nutritional abnormalities may contribute to the impairment of skeletal muscle mass and function thus predisposing patients to the condition of sarcopenia. Herein, we aim to investigate the association of uremic toxins and sacropenia. In addition, the prevalence and mortality predictive power of sarcopenia, defined by different methods, in a cohort of hemodialysis patients. Methods. We plan to evaluate 300 HD patients. Sarcopenia was defined as reduced muscle function assessed by handgrip strength (HGS <30th percentile of a population-based reference adjusted for sex and age) plus diminished muscle mass assessed by different methods: (i) midarm muscle circumference (MAMC) <90% of reference value (A), (ii) muscle wasting by DEXA (B) and (iii) reduced skeletal muscle mass index (<10.76 kg/m² men; <6.76 kg/m² women) estimated by bioelectrical impedance analysis (BIA) (C). Serum levels of 3 established uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured. Besides, various relevant inflammatory markers will also be assessed. Patients will be followed for up to 3 years for all-cause mortality.

NCT03060590 Sarcopenia
MeSH: Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A and Agilent 1100 Series UV-Visible detectors G1314A. --- G1321A ---

Primary Outcomes

Description: To evaluate the association of sacropenia defined according to 1. Low muscle mass 2. Low muscle strength 3. Low physical performance and serum levels of some uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured.

Measure: Presence of Sarcopenia

Time: 3 years

2 Association of Uremic Sarcopenia and Mitochondrial Copy Number and Its Clinical Correlates in Taiwanese Hemodialysis Patients

Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in age-related muscle atrophy. The two factors may interfere with the balance between protein synthesis and breakdown, cause mitochondrial dysfunction, and induce apoptosis. Sarcopenia, inflammation and oxidative stress is highly prevalent in hemodialysis patients and may contribute to mortality. The copy number of mitochondrial DNA (mtDNA) is affected by oxidative stress in blood circulation. This study aimed to test whether mtDNA copy number correlates with oxidative stress and some uremic toxins in nondiabetic hemodialysis(HD) patients. 200 nondiabetic hemodialysis patients and 50 healthy subjects will be enrolled. This study will be performed to investigate quantitative changes in mtDNA occur in HD patients with and without sarcopenia. Copy number of mtDNA in leukocyte DNA is determined by real-time polymerase chain reaction in HD patients and 50 age- and sex-matched control subjects. In addition, correlation of the alterations of albumin redox status, 8-isoprostane, plasma IL-6 ,LBP and TNF-a and as well as various uremic toxins will be performed.

NCT03929458 Sarcopenia Mitochondrial DNA
MeSH: Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A. --- G1321A ---

Primary Outcomes

Description: The copy number of the mtDNA and the nDNA is calculated using the threshold cycle number (Ct) and intrapolating from the standard curve. The ratio of the copy number of mtDNA to the copy number of nDNA is measurement of mtDNA content.

Measure: Determination of mtDNA/nDNA Ratio as a measure of mtDNA Content

Time: 1 years

Secondary Outcomes

Description: ndoxyl sulfate (IS) and para-cresol (p-cresol) belong to the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.

Measure: Plasma uremic toxins analysis

Time: 1 years

Description: Total 8-iso-PGF2-alpha concentrations in plasma were measured by a specific enzyme immunoassay (EIA) kit

Measure: Total of 8-iso-PGF2-alpha Analysis

Time: 1 years

Description: The IL-6 was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of IL-6

Time: 1 years

Description: The TNF-α was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of TNF-α

Time: 1 years

Description: The LBP was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of Liposaccharide-binding protein (LBP)

Time: 1 years

Description: the fractions of HMA, HNA-1, and HNA-2 to total HSA were measured using HPLC

Measure: Measurement of the Albumin Redox State

Time: 1 years


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