SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs429358

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 clinical trials

Clinical Trials


1 Austrian Prospective Cohort Study in Cognitive Function of Elderly Marathon-runners

There is substantial research on the effects of physical exercise on cognitive functions. However, less attention has been paid on the requirements of training intensity and length to enhance cognitive abilities in the elderly. To the investigators knowledge no studies have evaluated the effects of extensive endurance exercise training on cognitive functions by studying elderly marathon runners and bicyclists. On the basis of the scientific literature published so far it is not known whether the beneficial impact of endurance exercise training depends on the intensity of training. The investigators therefore designed a cohort study with adequate power in order to evaluate the effects of intensive endurance exercise training on cognition. This trial, an Austrian prospective cohort study in cognitive function of elderly marathon-runners (APSOEM) is being conducted and will compare neuropsychological performance outcomes of elderly marathon runners or bicyclists with controls matched concerning age, education years, occupation, and verbal intelligence.

NCT01045031
Conditions
  1. Cognitive Decline
MeSH:Cognitive Dysfunction
HPO:Cognitive impairment Mental deterioration

For this, pre-designed TaqMan SNP-Genotyping assays to distinguish the ApoE ε4 allele from ε2 and ε3 at amino acid position 112 (ApoE rs429358, Assay ID C_3084793_20, Applied Biosystems) and the ApoE ε2 allele from ε3 and ε4 at amino acid position 158 (rs7412, Assay ID C_904973_10, Applied Biosystems) were purchased.

Primary Outcomes

Description: Hypothesis will be tested at the second follow-up examinations.

Measure: the Proportion of Subjects, Who Will Develop Mild Cognitive Impairment

Time: 10 years

Measure: Brain-derived Neurotrophic Factor (BDNF)

Time: Baseline and 5 years

Secondary Outcomes

Description: The following self rating scales were used: WHO-5 Quality of Life Assessment (Braeher, E., Muehlan, H., Albani, C., & Schmidt, S. (2007). Testing and standardization of the German version of the EUROHIS-QOL and WHO-5 quality-of life-indices. Diagnostica, 53(2), 83-96.). Range: 0 - 25, higher scores indicate better quality of life.

Measure: Self Rating by Questionnaires

Time: Baseline and 5 years

Measure: Insulin-like Growth Factor (IGF-1)

Time: Baseline and 5 years

2 Effect of Beta-Glucan Molecular Weight and Viscosity on the Mechanism of Cholesterol Lowering in Humans

The primary aim of this study is to determine whether the cholesterol-lowering efficacy of barley b- glucan varied as function of molecular weight (MW) and the total daily amount consumed. Our second aim is to investigate the mechanism responsible for the action, specifically, whether β-glucan lowers circulating cholesterol concentration via inhibiting cholesterol absorption and synthesis. Thirdly, we aim to determine if any gene-diet interactions are associated with cholesterol lowering by barley β-glucan. In addition, we aim to investigate the alteration of the gut microbiota after β-glucan consumption and the correlation between the altered gut microbiota and cardiovascular disease risk factors.

NCT01408719
Conditions
  1. Hypercholesterolemia
Interventions
  1. Dietary Supplement: Control
  2. Dietary Supplement: 3g LMW beta-glucan
  3. Dietary Supplement: 5g LMW beta-glucan
  4. Dietary Supplement: 3g HMW beta-glucan
MeSH:Hypercholesterolemia
HPO:Hypercholesterolemia

The Single Nucleotide Polymorphism (SNP) rs3808607 of CYP7A1 gene, rs429358 and rs7412 of APOE gene, and their associations with different blood lipid responses to beta-glucan interventions will be determined.. Changes in Body Weight and Waist Circumference(WC).

Single nucleotide polymorphisms (SNPs), rs3808607 of gene CYP7A1and rs429358 and rs7412 will be determined byTaqMan® SNP Genotyping assay following the manufacturer's protocol.

Primary Outcomes

Description: Fasted total cholesterol concentration will be measured using the automated enzymatic methods.

Measure: Changs in Total Cholesterol

Time: Beginning and end of each phase

Description: Serum LDL cholesterol will be estimated using the Friedewald equation.

Measure: Changes in LDL Cholesterol

Time: Beginning and end of each phase

Secondary Outcomes

Description: The rate of cholesterol absorption and synthesis will be measured in each intervention phase using single stable isotope labelling technique.

Measure: Cholesterol Absorption/Synthesis

Time: End of each phase

Description: The Single Nucleotide Polymorphism (SNP) rs3808607 of CYP7A1 gene, rs429358 and rs7412 of APOE gene, and their associations with different blood lipid responses to beta-glucan interventions will be determined.

Measure: Potential Gene-nutrient Interactions: CYP7A1 and APOE

Time: Once for each participant

Description: Body weight will be monitored every day when subject visits the Richardson Centre. Waist circumference will be measured at the beginning and end of each study phase.

Measure: Changes in Body Weight and Waist Circumference(WC)

Time: Every day for body weight; beginning and end of each phase for WC

3 Reading Imperial Surrey Saturated Fat Cholesterol Intervention (RISSCI) Study. RISSCI-1 Blood Cholesterol Response Study

Raised blood cholesterol (also referred to as blood LDL-cholesterol) is a major risk factor for developing heart disease. Dietary saturated fat is recognised as the main dietary component responsible for raising blood LDL-cholesterol, and reducing its intake has been the mainstay of dietary guidelines for the prevention of heart disease for over 30 years. However, there is very little evidence for a direct link between the intake of saturated fat and risk of dying from heart disease. One explanation for this, is that the link between saturated fat intake and heart disease is not a direct one, but relies heavily on the ability of saturated fat to raise blood LDL-cholesterol levels. This LDL cholesterol-raising effect of saturated fat is complex, and highly variable between individuals because of differences in the metabolism of dietary fat and cholesterol between people. The main aim of this study is to measure the amount of variation in blood LDL-cholesterol in 150 healthy volunteers (75 at the University of Surrey and 75 at the University of Reading) in response to lowering the amount of saturated fat in the diet to the level recommended by the government for the prevention of heart disease. This collaborative project between the Universities of Reading, Surrey and Imperial ('RISSCI-1 Blood Cholesterol Response Study') will permit identification of two subgroups of men who show either a high or low LDL-cholesterol response to a reduction in dietary saturated intake. These participants (n=36) will be provided with an opportunity to participate in a similar follow-up study ('RISSCI-2') that will also take place at the University of Surrey and Reading. In this follow-up study, the participants will be asked to repeat a similar study protocol as for RISSCI-1, but undergo more detailed measurements to determine how saturated fat is metabolised in the body.

NCT03270527
Conditions
  1. Lipids
  2. Lipid Metabolism
  3. Healthy
Interventions
  1. Other: High SFA diet (Diet 1)
  2. Other: Low SFA diet (Diet 2)

rs429358 and rs7412), APOA-I (e.g.

Primary Outcomes

Measure: Changes in fasting total cholesterol (consisting of LDL-cholesterol and HDL) concentrations

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Secondary Outcomes

Measure: Fasting triacylglycerol

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL immune functions

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL anti-inflammatory and anti-oxidant (PON-1) properties

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL capacity to promote cholesterol efflux (ex-vivo)

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fasting insulin, glucose

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Adhesion molecules, markers of vascular function

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Inflammatory markers & adipokines

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: LDL-R gene expression

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: Polymorphic genes with potential influence on the serum LDL response to dietary saturated fat, e.g.: ATP-binding cassette proteins (cholesterol efflux proteins) ABCG5 (e.g. C1950G) ABCG8 (e.g. D19H, C1895T), functional polymorphisms in the farnesoid X receptor (FXR) and bile acid transporters (e.g. solute carrier organics anion 1B1). Fatty acid desaturases (FADS1 and FADS2). The patatin-like phospholipase domain-containing protein (PNPLA3) (e.g. rs738409 C/G), eNOS. Lipid/cholesterol homeostasis: serum apolipoprotein genes: APOE (ε2,ε3,ε4 e.g. rs429358 and rs7412), APOA-I (e.g. -75G/A), APOA4 (e.g. 360-2), APOA5 (e.g. -113/T>:c), APOCIII, APOB (e.g. -516C/T). Lipase genes: (e.g. LPL, HL, MGLL). Lipoprotein receptor genes (e.g. pvu11 in the LDL receptor), lipid transfer proteins (e.g. CETP e.g Taq1B, MTP), and other polymorphic genes related to the absorption and metabolism of dietary fat and regulation of lipid/cholesterol homeostasis.

Measure: Other relevant genes involved in the absorption and metabolism of dietary fat

Time: Baseline

Description: Analyses conducted by Imperial College London

Measure: Metabolomic analysis for the determination of the low molecular weight metabolite profiles in the biological fluids

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Changes in faecal bacterial population

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: BMI will also be calculated (kg/ height in m^2)

Measure: Weight

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fat mass

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fat free mass

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Waist circumference

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Hip circumference

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Blood pressure

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: Measured via pulse wave assessment using the Mobil-O-graph device.

Measure: Fasting vascular stiffness

Time: baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Other Outcomes

Measure: Genotyping for apolipoprotein E to determine the impact of this genotype on changes in the primary and secondary outcome measurements in response to dietary fat intake

Time: Baseline

4 Correlation of Polymorphisms of Lipoprotein Lipase (LpL) and Apolipoprotein E (Apo E) With Lipid Profile of Children With Acute Lymphoblastic Leukaemia During Therapy With L - Asparaginase

Haematological malignancies constitute the most common neoplastic disease in child population, with acute leukemia occupying the number one spot with a percentage of 32.8%. In children, leukaemia is primarily encountered in its acute form (97%) and in the majority of the cases it is presented as Acute Lymphoblastic Leukaemia - ALL (80%). Acute Non-Lymphoblastic Leukemia - ANLL is encountered less frequently (17%) and it includes Acute Myelogenous Leukaemia - AML (15%) and some other rare forms (2%), while the remainder 3% corresponds to chronic leukaemia. L-Asparaginase (L-ASP) is a fundamental component during the loading phase with regards to achieving remission of the disease and, likewise, during the maintenance phase with the intention of establishing that remission in both children and adults suffering from ALL. The cytotoxic effect of the exogenous administration of Asparaginase is caused by the depletion of the reserve of asparagine in the blood. Asparaginase (ASP) acts as a catalyst for the hydrolysis of asparagine to aspartic acid and ammonia. Asparagine is vital for protein and cell synthesis and, therefore, for their survival. The normal cells of the human body have the ability to produce asparagine from aspartic acid, with the assistance of the enzyme asparagine synthetase. However, the neoplastic cells either lack the enzyme completely or contain minute amounts of it resulting in their inability to synthesize asparagine de novo. The survival of these cells and their ability to synthesize proteins depends entirely on receiving asparagine from the blood. Thus, the administration of ASP leads to the inhibition of DNA, RNA and protein synthesis which, in turn, results in the apoptosis of these cells. Despite L-ASP's paramount importance in the chemotherapy treatment of leukaemia, it is responsible for a plethora of toxic adverse effects that sometimes even require the termination of its administration. A critical adverse event of ASP is a disorder in the metabolism of lipids. Specifically, it appears that the activation of the endogenous pathway that produces triglycerides through hepatic synthesis leads to hypertriglyceridaemia. The liver is capable of synthesizing VLDL (Very Low Density Lipoproteins) that are rich in triglycerides. Utilising the effect of the enzyme Lipoprotein Lipase (LpL), located on the vascular endothelium, the triglycerides detach from the VLDL causing the latter to transform into IDL (Intermediate Density Lipoproteins) and afterwards into LDL (Low Density Lipoproteins). The triglycerides are later extracted from the blood circulatory system and stored in the adipose tissue, while the LDL particles connect with tissue receptors or macrophage receptors. The final products of the breakdown (coming from the peripheral hydrolysis of triglycerides with the help of LpL) of chylomicrons, VLDL, the remnants of lipoproteins, will eventually be removed by hepatic receptors. Apolipoprotein E (Apo-E) plays an important role in this procedure, it binds these remnants in the presence of LpL and hepatic lipase. Along the duration of the treatment with ASP, reduced LpL functionality is recorded, resulting in impaired plasma clearance of triglycerides and an increase in their levels, while L-ASP appears to cause disorders in other lipid factors, such as cholesterol, HDL and apolipoprotein A. Disorders of lipid metabolism have been found to be associated with polymorphisms of the LpL and Apo-E genes, sometimes with positive and sometimes with negative effects on the lipid profile and more likely participation in cardiovascular complications. The current study will evaluate, the lipid profile of children with ALL, the effect of L-ASP on the lipid profile of the aforementioned patients, as well as the correlation between the polymorphisms of Lipoprotein Lipase (LpL) and Apolipoprotein E (ApoE) with the values of the lipids during chemotherapy. Both the universal and national bibliography that pertain to the effect of ASP on the potency of LpL and App E and to the values of the lipids in children that suffer from ALL during chemotherapy with L-ASP is limited, while there exists no bibliographic reference correlating the genetic background to LpL and Apo E and the relation of the lipid profile. The current study will examine for the first time gene polymorphisms of LpL and Apo E in children with ALL during treatment with ASP.

NCT04364451
Conditions
  1. Acute Lymphoblastic Leukemia
Interventions
  1. Other: Correlation of Polymorphisms of Lipoprotein Lipase (LpL) and Apolipoprotein E (Apo E) With Lipid Profile of Children With Acute Lymphoblastic Leukaemia During Therapy With L - Asparaginase
MeSH:Leukemia Precursor Cell Lymphoblastic Leukemia-Lymphoma Leukemia, Lymphoid
HPO:Leukemia Lymphoid leukemia

Moreover, an examination of LpL polymorphisms (the three most common polymorphisms p.N291S, p.D9N, p.S447X) and of Apo E polymorphisms [ε2(rs7412-T,rs429358-T), ε3(rs7412-C, rs429358-T) and ε4 (rs7412-C, rs429358-C)] will be performed after isolating the DNA from the peripheral blood and analyzing it with molecular techniques.

Primary Outcomes

Description: The genotypes of children with ALL will be recorded and it might constitute an early indicative factor concerning the treatment's outcome. Thusly, essential information will be extracted about the possible contribution of genotype of children under treatment with L-ASP to the lipid disorder as shown in the lab results, to better monitoring of each unique phase of the therapy for clinical occurrences and complication and to faster therapeutic intervention.

Measure: The correlation of lipoprotein lipase (LpL) and apolipoprotein E (apoE) polymorphisms with lipid values during the chemotherapy protocol.

Time: Baseline

Description: During the disease's diagnosis, the lipid profile of the patients' will be determined by measuring the changes of the following parameters compared to the baseline measures: cholesterol (mg/dl), triglycerides(mg/dl), HDL-cholesterol(mg/dl), LDL-cholesterol(mg/dl), apolipoprotein A1(mg/dl), apolipoprotein B100(g/L), lipoprotein α [Lp(α)](nmol/l), glucose (mg/dl), SGOT (U/I), SGPT (U/I), TSH (mU/l) FT4 (pmol/l) amylase (U/I) and lipase (U/I).

Measure: Assessment of the effect of asparaginase by measuring the changes induced in the lipid profile of children with acute lymphoblastic leukaemia.

Time: Baseline and days 11, 15, 24, 33 in loading phase and days 8, 16, 21 in maintenance phase

5 A Virtual Reality Intervention to Improve Attention in Heart Failure Patients

Heart failure is a prevalent and serious public health concern with the growing aging population. Patients with heart failure often experience attention impairment that decreases their ability to perform self-care and diminishes their health-related quality of life. In past studies, 15 - 27% of heart failure patients had attention impairment. Attention is fundamental to human activities including self-care management of heart failure. However, cognitive interventions focusing on attention are scarce in heart failure literature. This study focuses on developing a novel cognitive intervention specifically targeting improved attention and testing its efficacy on improving attention, self-care, and health-related quality of life. The investigators in this study are asking the following 3 questions: 1) does the newly developed cognitive intervention using immersive virtual reality technology (Nature-VR) improve attention compared with the control condition (Urban-VR)?; 2) does Nature-VR intervention improve HF self-care and health-related quality of life compared with Urban-VR control condition?; and 3) are selected biological factors associated with attention function in HF? The virtual reality-based cognitive intervention (Nature-VR) can be an efficacious intervention for the patients to use and enjoy without burdening already reduced attention. This study has great potential to improve attention and prevent attention impairment, thereby leading to healthier lives among heart failure patients.

NCT04485507
Conditions
  1. Heart Failure
  2. Cognitive Dysfunction
Interventions
  1. Other: Nature-VR
  2. Other: Urban-VR
MeSH:Heart Failure Cognitive Dysfunction
HPO:Abnormal left ventricular function Cognitive impairment Congestive heart failure Mental deterioration Right ventricular failure

The frequency of APOE genotypes (e.g., rs7412, rs429358) will be examined and attention will be examined by the genotype.. Dopamine receptor gene.

Primary Outcomes

Description: Performances on the computerized cognitive test of Multi-Source Interference Task will be examined in terms of speed and accuracy. Participants are instructed to identify the target number, which is different than the other 3 numbers provided on the computer screen. There are two types of trials, congruent and incongruent. Congruent trials have a target number that is always matched its position on the button (e.g., 100, 020, or 223), in contrast, incongruent trials have the target number that is never matched with it position in the button (e.g., 010, 233, or 232). Faster response time and lower error rates indicate better attention.

Measure: Changes in attention - Multi-Source Interference Task

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Description: Participants are instructed to remember the sequence of numbers the data collector told and repeat the numbers right after the instructor finished talking. This test has 2 subsets, Forward-repeat exactly the same sequence, and Backward-repeat the numbers in the backward from last to the first. More digits correctly repeated indicate better attention.

Measure: Changes in attention - Digit Span Test

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Description: This traditional cognitive test of attention is a paper-pencil based measure and has 2 parts. Part A requires participants to connect a series of randomly arrayed, distinct circles numbered 1 to 25 in correct order as quickly as possible. Part B requires participants to connect a series of 25 circles numbered 1 to 13 randomly intermixed with letters from A to L, alternating between numbers and letters, and proceeding in ascending order (e.g., 1-A-2-B-3 and so on). Faster response time in seconds indicates better attention.

Measure: Changes in attention - Trail Making Test

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Description: Stroop Test is a color-word test measuring the ability to processe different visual features and ignore distractions. The test has 2 parts of reading letters of color names and colors of color names using 4 color names (i.e., red, blue, yellow, and green). Congruent trials have the same letters and colors of the color names (i.e., red in red color). Incongruent trials have different letters and colors of the color names (i.e., red in blue color). Faster response time and lower error rates indicate better attention.

Measure: Changes in attention - Stroop Test

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Description: This self-reported questionnaire has 13 items on 0 to 10 response scales asking effectiveness in behaviors requiring attention. Higher scores indicate better subjective attention

Measure: Changes in attention - Attentional Function Index

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Secondary Outcomes

Description: This self-reported questionnaire consists of 29 items divided into 3 scales measuring self-care maintenance, symptom perception, and self-care management. In addition, self-care confidence is measured by additional 10 items. Each scale is scored separately and standardized to achieve a possible score of 0 to 100. Higher scores indicate better self-care of HF.

Measure: Changes in the Self-Care of Heart Failure Index (SCHFI)

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Description: Minnesota Living with Heart Failure Questionnaire will be used to measure health-related quality of life. This self-report questionnaire consists of 21 items on which patients are asked to rate how their HF condition impacted their physical and emotional health. Lower scores indicate better HRQL.

Measure: Changes in Minnesota Living with Heart Failure Questionnaire (LHFQ)

Time: Baseline, 4 weeks, 8 weeks, and 26 weeks

Other Outcomes

Description: Venipuncture will be performed to draw the blood by following Indiana University general laboratory safety guidelines. Changes in the serum BDNF levels (ng/ml) and its associations with attention will be examined.

Measure: Changes in serum brain-derived neurotrophic factor levels (serum BDNF)

Time: Baseline and 4 weeks

Description: Venupucture will be performed to draw the blood for the possible genetic biomarker. The frequency of BDNF Val66Met genotype (e.g., rs6265) will be examined and attention will be examined by the genotype.

Measure: BDNF gene

Time: Baseline

Description: Venupucture will be performed to draw the blood for the possible genetic biomarker. The 3 common allele of APOE (i.e., e2, e3, and e4) will be examined. The frequency of APOE genotypes (e.g., rs7412, rs429358) will be examined and attention will be examined by the genotype.

Measure: Apolipoprotein (APOE) gene

Time: Baseline

Description: Venupucture will be performed to draw the blood for the possible genetic biomarker. Specifically, dopamine receptor gene 4 (e.g., 48 bp VNTR) polymorphism and its association with attention will be examined.

Measure: Dopamine receptor gene

Time: Baseline

Description: Venupucture will be performed to draw the blood for the possible genetic biomarker. The dopamine transporter gene (DAT1) (e.g., rs28363170 - 40 bp VNTR) polymorphism and its association with attention will be examined.

Measure: Dopamine transporter gene

Time: Baseline

6 Clinical, Neurophysiological and Genetical Predictors of Consciousness Recovery and Functional Outcomes After Severe Acquired Brain Injuries

Severe Acquired Brain Injury is defined as a traumatic, post-anoxic, vascular or other brain damage that causes coma for at least 24 hours and leads to permanent disability with sensorial, motor, cognitive or compartmental impairment. In this context, an accurate characterization of individual patients' profile in terms of neuronal damage, potential for neuroplasticity, neurofunctional and clinical state could allow to plan tailored rehabilitation and care pathway on the basis of solid prognostic information, also for optimizing resources of the National Health care systems and enhance ethical decisions. Patient profiling should encompass measures and procedures easily available at the bedside, and with affordable time, resource, and money-costs to determine a real impact on National Health systems. The aim of the study is identifying patient profiles in terms of clinical, neurophysiological and genetical aspects with better long-term outcome in order to plan tailored therapeutic interventions.

NCT04495192
Conditions
  1. Brain Injuries
  2. Disorder of Consciousness
Interventions
  1. Genetic: Genetic analysis of different single nucleotide polymorphisms on ApoE, BDNF and DRD2 genes assessment
MeSH:Brain Injuries Consciousness Disorders Wounds and Injuries

g.45412079C>T] and rs429358 (NC_000019.9:

Primary Outcomes

Description: The Consciousness recovery will be measured throught the italian version of the CRS-R performed for at least 5 time during one week to avoid a misdiagnosis due to consciousness fluctuations.Consciousness recovery is defined as CRS_R >23 and Improvement Responsiveness will be registred for patients transitioning from UWS to MCS or E-MCS, and from MCS to E-MCS.

Measure: Consciousness recovery

Time: 24 months

Description: Tracheostomy weaning will be reported as a dichotomic variable: decannulated yes/no

Measure: Tracheostomy weaning

Time: 24 months

Description: The swallowing severity will be assessed throught the Oral feeding recovery measured by Functional Oral Intake Scale (FOIS) scoring from 1 (severe dysphagia) to 7(absence of dysphagia). The outcome of "oral feeding recovery" corrispond to Functional Oral Intake Scale>4

Measure: Total oral feeding recovery

Time: 24 months

Description: Functional autonomy measured by Glasgow Outcome Scale Expanded scoring between 1 (death) and 8 (complete functional recovery). A good autonomy is defined for Glasgow Outcome Scale Expanded >4

Measure: Functional autonomy

Time: 24 months

Description: In decannulated patients, time between admission in the IRU and decannulation will be reported

Measure: Time to decannulation

Time: 24 months

Secondary Outcomes

Description: The cognitive profile will be assessed firstly investigating the "post-event amnesia" by the Galveston Orientation & Amnesia Test. The date of "post-event amnesia" resolution will be reported when the Galveston Orientation & Amnesia Test score >75 for two consecutive days

Measure: Cognitive profile

Time: 24 months

Description: Degree of social and occupational reintegration assessed by the Community Integration Questionnaire (CIQ). Minimum score is 10 and maximum score is 50. A higher score indicates a higher comunity integration

Measure: Degree of social and occupational reintegration

Time: 24 months

Description: The Quality of Life after Brain Injury (QoLibri) scale allows to measure both the quality of life perceived by both the patient and the caregiver. Quality of Life after Brain Injury (QoLibri) scores are reported on a 0-100 scale. 0=worst possible quality of life and 100=best possible quality of life.

Measure: Subjective and Objective Quality Of Life

Time: 24 months


HPO Nodes


HP:0001268: Mental deterioration
Genes 494
PRDM8 KCNA2 VCP TRNL1 TBP SNCB DNAJC13 PNPLA6 MAPT RBM28 COMT PDE11A SCN8A PSEN2 ERCC8 PRNP ERCC6 GRN TREM2 EEF1A2 FTL HFE SNCA GBA2 ACTL6B TYMP SNCA HTT MAPT TTR CHD2 SYNJ1 TRNE C19ORF12 SYNJ1 NPC1 ABCC8 ATXN2 WFS1 C9ORF72 CSTB WWOX COX3 CYTB MFN2 ZFYVE26 PRKN NDP CHI3L1 ADH1C ACTB LRRK2 AUH TLR3 MAPT DNAJC6 GDAP2 SLC44A1 CHCHD10 TINF2 CREBBP C9ORF72 COX2 SDHA PMPCA CUBN NECAP1 PDGFB NHLRC1 GABRB2 PLA2G6 PINK1 GABRA2 WDR45 NAGLU CHMP2B NOTCH2NLC TOMM40 GALC TRAK1 CSF1R CHMP2B COL18A1 VCP SCN3A JAM2 ARSA TIMM8A HIBCH TREX1 TRNH MATR3 CHMP2B HGSNAT LYST GRN MPO PRNP APP TREM2 CUX2 PPP2R2B CYFIP2 NBN CACNA1B COASY ND1 ADA2 CLN6 CST3 ATP6V1A SQSTM1 CLN6 MECP2 ABCD1 DNAJC5 PDGFRB TREM2 PSAP SLC13A5 HNF4A ATP6V1E1 ATXN2 MYORG GBA SLC20A2 FMR1 COL4A1 HLA-DQB1 SLC13A5 ATXN7 PLP1 SCARB2 PSAP GABRA5 GRN PSEN1 TYROBP PSEN1 ATN1 RNF216 CHMP2B NRAS APOE TRNS2 TRNS1 NOTCH3 HTT XPR1 ROGDI NR4A2 TK2 SURF1 SNCA PSAP CREBBP SPG11 TRNK APP OPA1 MAPT RRM2B TBK1 DGUOK GBA2 ITM2B WFS1 TARDBP ND4 PDE10A POLG APP APOL2 GBA TUBA4A ND5 LRRK2 SLC6A1 SPG21 PANK2 UBAP1 PSEN2 GRIN2D MFSD8 PRKAR1A DNM1 CP COX1 PRNP SORL1 CLN8 UBQLN2 CYP27A1 ND6 RAB27A GALC HEXA PRDX1 MAPT A2M QDPR ATP6 APP MMACHC VCP CERS1 SNORD118 ALDH18A1 HNRNPA2B1 TRNK TBK1 TYROBP GABRG2 SQSTM1 HTRA1 AARS2 SUMF1 ARV1 STXBP1 GALC FA2H DCTN1 HTT SLC1A2 RRM2B TIMM8A CLN8 CLTC ASAH1 ASAH1 CPLX1 SLC2A3 HSD17B10 NDUFAF3 NTRK2 PPT1 TRNF GBE1 KCNB1 MAPT FTL VCP C9ORF72 PLA2G6 NHLRC1 DNM1L HEXB ERCC8 UCHL1 PSEN1 POLG MAPT HCN1 PSEN1 PLAU FBXO7 APOE MAPT CHCHD10 UCP2 MTHFR SNCAIP AARS1 TRNL1 ATP7B COX1 NDUFA6 DISC2 PARK7 PTS CTC1 AP2M1 GLB1 PRNP GIGYF2 PSAP GRN IRF6 C9ORF72 TREX1 APP PDGFRB KCNC1 ATP13A2 SMC1A PINK1 PPP2R2B HMBS PRNP MAPT FA2H PRNP CDK19 GLUD2 PSEN1 TRPM7 SCO2 GBA SYN2 ATP6V0A2 IDUA PSEN1 PANK2 MCOLN1 RNASEH1 SYNGAP1 ROGDI PPP3CA CNTNAP2 DNMT1 KCNJ11 FUS GCH1 SNCA ATP1A2 DAOA SPG11 SYNJ1 TBK1 MAPT SCN1A SNCA SERPINI1 HNRNPA1 SDHD TBC1D24 VPS13C GCDH GBA APP ATP6 CSF1R PDGFRB DRD3 TRNQ TRNQ SYNJ1 DCTN1 SPG21 AP3B2 CACNA1A AP5Z1 TIMMDC1 PRKCG RTN4R TBP PODXL FGF12 TRNF ATP13A2 ADA2 VCP PLEKHG4 CTSD ATXN7 PDGFB C9ORF72 JPH3 EPM2A TTPA GNAS KMT2A CLN5 NPC2 PARS2 DARS2 JPH3 HNF1A ERCC2 DCAF17 HTR2A LRRK2 EPM2A VCP TMEM106B COX3 ALDH18A1 PRNP MATR3 ATP13A2 VPS13C TMEM106B SNCA ND1 VPS35 UBA5 EIF4G1 EP300 PRNP XPA GRN SQSTM1 MTHFR DNMT1 NDUFB8 GABRB3 TRNW PRDM8 TRNS2 TREM2 SDHAF1 CSTB ERCC6 COX2 TWNK GM2A ERCC4 RNF216 GBA ATXN10 DHDDS PRKAR1B KCTD7 GALC PRICKLE1 NDUFS2 DNM1 APP TRNV RBM28 BSCL2 TARDBP ATP1A3 NUS1 KCNA2 MAPT PAH DALRD3 SCN1A YWHAG TREM2 PLA2G6 SQSTM1 MAPK10 GBA MBTPS2 BSCL2 FA2H CNKSR2 SPAST RAB39B VPS13A ATN1 VPS13A CTNS ARSA SZT2 ATXN3 CLN3 MAPT CTSF ATXN2 MAPT APOL4 TRNW CHMP2B TRNC HNRNPA2B1 SGPL1 TBP NOTCH3 DNMT1 ND6 WDR45 ATXN8OS SUMF1 CFAP43 ITM2B FMR1 APTX LMNB1 UBTF ND5 ATP6V1A TUBB4A TREM2 CISD2 RRM2B ARSA HTRA1 ATP13A2 NOTCH2NLC ABCA7 PSEN1 NOS3 DMPK C19ORF12 HEPACAM TMEM106B CHD2 HTRA2 TRNS1 GBA SDHB
Protein Mutations 3
K56M V158M V66M
HP:0001635: Congestive heart failure
Genes 261
TBX20 RAB3GAP2 AGPAT2 FLNC LDB3 TMEM127 FOS COG7 PHYH HFE PRKAR1A GNPTAB KCNJ5 LIMK1 TRNK RBM20 PPARG SDHAF2 HBB STAT1 HADHA VHL FGFR3 PRKAG2 ENPP1 RET CAV3 SELENON EYA4 PNPLA2 PRKAR1A SCO2 LMNA RYR1 FBN1 MYL3 HJV ELAC2 TMEM43 TRNL1 CITED2 DES ABCC6 CLIP2 COX3 CYTB JUP TPI1 ADCY5 PSEN1 FH GDF2 DSP ELN TTN IKBKG GJA1 BAZ1B HNRNPA1 GPR35 COL1A1 CCR6 TRNQ AFF4 RFC2 GTF2I TTN GATA4 CACNA1S GLB1 TNNI3 AGGF1 SF3B1 CAVIN1 PLN TRNF TNNI3K TCF4 VCL TUBB RET ATXN7 LMNA LMNA GTPBP3 XYLT2 SDHB FBLN5 HBA1 MYH7 TMEM127 KIF1B DES HADHB DNMT3A VPS33A CAV1 CDH23 TLL1 EPG5 ATP6V1A GLA BMP2 EFEMP2 SLC25A11 HADHB ACTN2 ND1 PSMB8 SCN1B CP TMEM70 MYD88 HBB SMAD4 ALMS1 MTTP MAX ACAD9 VHL SLC25A3 FGD1 NDUFB8 TRNW HBA2 SDHD BCHE WRN SLC2A10 TRNS2 CYTB ENG SDHB NDUFB11 LMNA DMD COX2 CAV1 NKX2-5 LMNA SURF1 HLA-DRB1 GATAD1 SDHC PRKAR1A TRNK PRDM16 TNNT2 GNA11 IFIH1 ABCC6 HBB MDH2 NDUFS2 TRNV SDHA ACAD9 FXN SLC25A26 SLC19A2 GTF2IRD1 RPS19 GLA PPA2 MYPN EYA4 CITED2 DTNA MAX NF1 LMNA XYLT1 ND6 SNAP29 TBX20 DSP MST1 FLNA DLST MYH7 MYH7 ADAMTSL2 MYH7 VCP SCN4A ALMS1 NKX2-5 GDNF HFE TF MECP2 BAG3 HAMP TRNK TET2 ACTC1 RASA1 LMNA LMNA MYH6 TRPM4 TRIM37 SDHD TLL1 TRNC STRADA CCN2 HNRNPA2B1 MYH7 TAZ RET CLIC2 SGCD GTPBP3 PEX7 SDHB TRIP4 MYSM1 TPM1 NDUFAF3 PTEN CEP19 SDHD NDUFAF1 FGF23 EPAS1 ND5 SLC17A5 HADHA GATA6 BSCL2 ATP5F1A ACVRL1 CLIC2 IRF5 ACTC1 TBL2 MAPRE2 JUP CASR KIF1B VHL NSMCE2 TRNL1 ADCY5 DNAJC19 DSP MYLK2 PLOD1 COX1 MYH6 COL1A2 IDS PPARG ENG SCN5A GBA TRNS1 PSEN2 SLC22A5 TRNE
SNP 0