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 rs7412

Developed by Shray Alag, 2020-2021.
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

APOE genotypes will be investigated by HRM with two sets of PCR primers designed to amplify the regions encompassing rs7412 [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 500
SPG11 WDR45 NOTCH2NLC EEF1A2 ALDH18A1 ND6 TIMM8A TUBA4A TRNL1 TRNK VPS35 PNPLA6 TRNC SLC20A2 DRD3 NECAP1 ERCC6 HNRNPA2B1 CNKSR2 HFE GABRG2 APP RRM2B UCP2 TRNS2 NR4A2 GRN APP ATP13A2 MYORG TTR AARS2 DNM1 STXBP1 ITM2B ATXN10 ND1 KCNJ11 ARSA IRF6 ATXN8OS SYNJ1 C9ORF72 CSTB AARS1 ATP6 LRRK2 PSAP COMT PRDX1 GBA NDUFA6 PODXL VPS13C TBK1 PDGFRB SQSTM1 CYP27A1 TREX1 COX1 PMPCA TIMM8A TYROBP PRKAR1B HCN1 GNAS GCH1 ATN1 MTHFR CLTC VCP PSEN1 L1CAM GABRA5 PDGFB PTS ATP6V0A2 C9ORF72 SUMF1 UBQLN2 SLC1A2 PANK2 PSEN1 ATP6 SDHAF1 GABRB2 MAPT TRNW MAPT KMT2A TMEM106B NOTCH2NLC DNAJC5 SNCA MPO SCN1A NTRK2 CLN3 PDGFRB CDK19 TRNW RRM2B CST3 ATP6V1E1 GRN ITM2B MFSD8 CHMP2B SQSTM1 CHD2 GALC ROGDI HNF4A ADA2 ACTL6B MATR3 GALC PRDM8 SNCA RNF216 ERCC8 ATP1A3 KCNB1 CTC1 GBA PSAP FA2H SCARB2 ABCA7 YWHAG PSEN2 ADH1C VPS13A RNF216 APOE TRNS1 TRNH ABCD1 COX1 CSF1R COASY FMR1 TREM2 ATXN2 SCO2 ATXN2 ARSA FTL DCAF17 MATR3 DNM1L FBXO7 ND1 ATXN7 DAOA ND4 NRAS AP2M1 TRNF AUH MBTPS2 APP DALRD3 GRN PANK2 KCNA2 QDPR TRNQ APP TOMM40 PRNP HNF1A HTRA1 RBM28 TRNS1 PSEN1 A2M HTT SLC2A3 ERCC8 PLP1 BSCL2 DNMT1 HNRNPA2B1 MECP2 SLC44A1 NOTCH3 CHMP2B JAM2 TRNK TBK1 CYTB C9ORF72 TREM2 GABRA2 SUMF1 HMBS MMACHC ABCC8 NPC1 CUBN PSEN2 SYNGAP1 SNCB GBA CREBBP AP3B2 ZFYVE26 APP PPT1 TRNF VPS13C NPC2 NUS1 NHLRC1 VCP HTT IDUA TUBB4A FGF12 SQSTM1 EPM2A TRNS2 DNM1 TREM2 PLA2G6 CHCHD10 PSEN1 EPM2A TYROBP PINK1 SNORD118 TYMP VCP SLC13A5 PLAU SNCA C19ORF12 DNAJC6 CLN5 SNCA HLA-DQB1 SCN8A JPH3 C19ORF12 HTR2A PRKN ACTB APP CUX2 IDS SPG21 CHMP2B PPP2R2B CHI3L1 NDP DNAJC13 ARSA GALC SQSTM1 AP5Z1 PLP1 SORL1 FA2H MAPT CSTB SLC13A5 NHLRC1 SNCA DGUOK COL4A1 CHMP2B PSAP RBM28 TARDBP TTPA POLG PRNP CACNA1A MAPT MAPT GBA MAPT TRPM7 NDUFB8 CREBBP KCTD7 APOL4 ATP6V1A TMEM106B CFAP43 VPS13A PDGFRB RRM2B WWOX ATP13A2 SYNJ1 ATXN2 MAPT TARDBP FMR1 SPG11 ATP1A2 DISC2 CTNS SYNJ1 TBK1 TBP DCTN1 SDHB RNASEH1 ROGDI GBA2 SGPL1 GCDH SNCA ADA2 NOTCH3 XPR1 APOL2 CTSD ATP7B DARS2 MAPT EP300 ATP6V1A BSCL2 ARV1 PDE10A SYN2 HTRA2 SPAST SZT2 ND6 SPG21 LRRK2 ATP13A2 PDE11A PPP2R2B TK2 MMACHC DNMT1 GBE1 IDS LMNB1 SMC1A FTL OPA1 CACNA1B TRNQ C9ORF72 HEXB RAB39B CISD2 ERCC2 PLA2G6 MTHFR ALDH18A1 GBA MFN2 HEPACAM VCP COX2 SERPINI1 KCNC1 PARK7 GRN SYNJ1 COX3 EIF4G1 GRIN2D LRRK2 CLN6 CERS1 MCOLN1 NBN PRKCG MAPT TRNE RTN4R MAPT TIMMDC1 NDUFAF3 PRDM8 WFS1 PRNP FA2H PSEN1 SDHD ERCC6 GIGYF2 APTX DLAT UBTF PRNP CNTNAP2 GLUD2 HTT CSF1R PPP3CA TBP DMPK WDR45 PSAP PRICKLE1 PDGFB PRNP SURF1 GABRB3 APP HEXA PSEN1 TREX1 VCP GBA TWNK HGSNAT CYFIP2 KCNA2 TRNV TRAK1 MAPK10 UBA5 ATP13A2 DNMT1 COX2 FUS CHD2 NDUFS2 PARS2 HIBCH HTRA1 MAPT SCN1A CTSF ND5 CHMP2B DHDDS ATXN3 CLN6 VCP PLEKHG4 NAGLU GBA2 POLG TRNL1 TLR3 PRNP GRN GDAP2 HNRNPA1 LYST GBA SNCAIP ATN1 CLN8 TMEM106B GALC CP XPA ND5 ATXN7 HSD17B10 COL18A1 TBP COX6B1 MAPT PRNP TINF2 PSEN1 APOE TREM2 PINK1 UBAP1 TREM2 GM2A SCN3A GLB1 C9ORF72 WFS1 ASAH1 DCTN1 PRKAR1A PLA2G6 TREM2 MAPT NOS3 COX3 JPH3 RAB27A SLC6A1 ERCC4 PRNP PAH UCHL1 ABCD1 CHCHD10 ASAH1 CLN8 SDHA
Protein Mutations 3
K56M V158M V66M
HP:0001635: Congestive heart failure
Genes 264
TLL1 DSP PLN SLC25A26 BSCL2 DSP NDUFB11 ACTC1 RET TRNL1 JUP CAV1 TRNK SGCD ACTC1 KCNJ5 GTF2IRD1 TRNC FXN WRN HBA2 TTN CAVIN1 VHL ATP6V1A PPA2 FGFR3 MYH7 TRNS2 EYA4 PLOD1 LMNA BMP2 KIF1B SLC2A10 NDUFB8 GNA11 CACNA1S ND1 HADHA TCF4 GAA TRNK VCL GATA6 TBL2 MYL3 PLOD1 ABCC6 GNPTAB SDHD STRADA PNPLA2 ENG LMNA CLIP2 RFC2 TAZ TPI1 COL1A2 BAG3 LIMK1 DSP GTPBP3 DES IRF5 NDUFAF1 ELN SELENON PSMB8 HJV MYD88 MYH6 AGGF1 EYA4 ATP5F1A TET2 ND6 HFE DMD MST1 MAPRE2 DLST DNMT3A TNNI3K TUBB TNNT2 EFEMP2 TRIP4 DNAJC19 XYLT1 TRNQ SDHB GDNF ADCY5 EPAS1 GDF2 PRKAG2 PSEN2 CCR6 AFF4 COL1A1 CDH23 CITED2 ENPP1 RAB3GAP2 BCHE FLNC GLA SF3B1 TRNW HADHA DES IFIH1 MECP2 TMEM70 GATAD1 ACAD9 HBB ACVRL1 HADHB MTTP RASA1 TMEM127 FGF23 NF1 PRDM16 SDHAF2 PRKAR1A FGD1 LMNA NDUFAF3 TNNI3 RBM20 VHL IKBKG VPS33A XYLT2 MYH6 SDHD TRPM4 GLB1 ALMS1 SDHD COX1 TPM1 AGPAT2 SCN5A CLIC2 SCO2 LMNA CAV1 SDHA LMNA HAMP RYR1 CASR MYH7 TRIM37 KIF1B LMNA PTEN SURF1 ACTN2 MYH7 RET LMNA ATXN7 LMNA SLC19A2 GTF2I RPS19 MYH7 TRNF STAT1 GTPBP3 PPARG TRNV TMEM127 LDB3 MAX TBX20 TRNS1 COX2 MDH2 SCO1 MYLK2 GJA1 HFE NDUFS2 GK TTN ELAC2 HNRNPA2B1 IDS TBX20 TRNE MAX NSMCE2 ACAD9 TRNK CYTB GATA4 ND5 GLA ADCY5 HBA1 HADHB SNAP29 MYH7 NKX2-5 SLC22A5 SDHC HBB CITED2 HLA-DRB1 HNRNPA1 ABCC6 SDHB SLC25A3 ALMS1 CP VCP SCN4A HBB FH FBN1 DTNA FOS PRKAR1A TF SDHB COG7 VHL TLL1 PPARG FLNA ENG PSEN1 CCN2 MYPN GPR35 BAZ1B JUP EPG5 SLC25A11 RET CLIC2 COX3 FBLN5 SLC17A5 CAV3 NKX2-5 CEP19 TMEM43 PEX7 SMAD4 PHYH CYTB SCN1B MYSM1 ADAMTSL2 PRKAR1A TRNL1