SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation S100A

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Stopping Postpartum Vitamin A Supplementation: Are we Missing Concealed Benefit?

The purpose of this study is to evaluate the effect of post-partum maternal vitamin A supplementation on breast milk bioactive compounds and immune status, growth and morbidity of children in the first four months of life.

NCT02043223
Conditions
  1. Vitamin A Deficiency
Interventions
  1. Dietary Supplement: Vitamin A (<3-day postpartum)
  2. Dietary Supplement: Vitamin A (6 wk postpartum)
  3. Dietary Supplement: Vitamin A (<3-day and 6 wk postpartum)
  4. Dietary Supplement: Placebo
MeSH:Night Blindness Vitamin A Deficiency
HPO:Low levels of vitamin A Nyctalopia

human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination). --- S100A ---

Primary Outcomes

Description: immune regulators in breast milk e.g. B-cell activating factor (BAFF); IL-7; Lactoferrin; sCD14, sIgA and TGF-beta levels at three time points- < 3-day postpartum (before 1st dose of supplementation) 7 wk postpartum (1wk after 2nd dose of supplementation) 15 wk postpartum

Measure: Breast milk immune regulators

Time: Four months

Secondary Outcomes

Description: Mitogen stimulated whole blood IL-10, IL-13, IFN-gamma, IL-21 and IL-17 responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant T helper cell immune responses

Time: Four months

Description: Tall like receptor (TLR)-4 and TLR9 agonist stimulated whole blood TNF-alpha and IL-10 and IFN-alpha responses at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant innate immune responses

Time: Four months

Description: Hepatitis B and Tetanus Toxoid specific plasma cell IgG responses at 15 wk of age (1wk after three doses of pentavalent vaccination) And Hepatitis B and Tetanus Toxoid specific IgG in plasma and Polio (3 serotypes) specific secretory IgA (sIgA) in stool at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Infant vaccines (Hepatitis B, Tetanus and Oral polio) specific antibody responses

Time: Four months

Description: Next generation sequencing (NGS) of bacterial 16s rDNA (+qPCR) in extracted stool samples and assessment of infant gut inflammatory markers e.g. human β-defensin-2 (HBD2); Neopterin; α-1-antitrypsin (AAT); neutrophil gelatinase-associated lipocalin (NGAL)-2 and S100A at two time points- 7 wk of age (1wk after 2nd dose of maternal supplementation , as well as, 1wk after first doses of pentavalent vaccination) 15 wk of age (1wk after three doses of pentavalent vaccination)

Measure: Relative abundance of infant gut microbial community and gut inflammatory markers

Time: Four months

Other Outcomes

Description: Infant plasma vitamin A status at 7 wk and 15 wk of age

Measure: Infant vitamin A status

Time: Four months

Description: Infant Weight-for-Age z-score (WAZ) at 7 wk and 15 wk of age

Measure: Infant growth

Time: Four months

Description: Infant morbidity status up to four months of age

Measure: Infant morbidity

Time: Four months

Description: Plasma Retinol Binding Protein (RBP) and breast milk vitamin A level at two time points- < 3-day postpartum (before 1st dose of supplementation) 15 wk postpartum

Measure: Mother vitamin A status

Time: Four months


HPO Nodes


HP:0000662: Nyctalopia
Genes 314
MERTK RPGR PCDH15 GUCY2D TRNT1 RHO OAT FGFR2 ABCA4 PEX3 PEX6 AIPL1 DHX38 IFT172 GUCA1A PITPNM3 FLVCR1 SLC7A14 RPGR RP1 GRK1 ZNF513 ARL2BP PRCD SAG PDE6A RLBP1 RBP3 CNGB1 PRPH2 NEK2 ZNF408 TTPA STIM1 CABP4 CYP4V2 POMGNT1 TOPORS CLRN1 PRPF8 KIF3B REEP6 KCNJ13 IFT172 AGBL5 MAK COG4 PROM1 RBP3 ABCA4 UNC119 SAG CACNA1F MFN2 BBS2 SEMA4A TULP1 RLBP1 IFT140 GNAT1 ESPN SEMA4A IDH3A LRAT PDE6H NYX CLRN1 RAX2 AP3D1 CNGB3 SLC7A14 CNNM4 OFD1 ABCA4 IDH3A HARS1 C8ORF37 GNAT1 MERTK RLBP1 ELOVL4 TULP1 KIZ CACNA2D4 ZNF408 CNGA1 ARL3 RP2 POC1B TRAPPC9 RP9 SNRNP200 SAG FLVCR1 IMPG2 PRPH2 RP1 CNGA3 RHO RDH5 IDS PEX16 CACNA1F CABP4 NR2E3 TUB PDE6A PROM1 VPS13B EYS NRL RP9 IFT88 RHO C8ORF37 RBP3 ADAM9 ARL3 TULP1 GUCY2D RPGR PDE6B PEX12 FSCN2 CDHR1 MTTP ZNF513 TTLL5 CLRN1 PCARE CHM GPR179 RLBP1 SNRNP200 TRPM1 PRPH2 POMGNT1 GGCX PEX2 PEX10 PDE6G FAM161A ROM1 CEP78 RDH11 POU3F4 GNB3 GNB3 OPN1MW AHI1 TTC8 MVK RP1L1 PRPH2 RIMS1 RP1L1 CNGA1 PDE6B CRB1 IDH3B CNGA1 SPATA7 PEX26 BEST1 PRPH2 BEST1 TRNS2 C1QTNF5 CIB2 PCYT1A C8ORF37 RP2 HGSNAT ATF6 DRAM2 CACNA1F IMPDH1 OAT PRPF3 GUCA1B DHDDS GRM6 BEST1 TRPM1 REEP6 ABCA4 ARL6 CHM DRAM2 RPE65 OPN1LW ITM2B GUCY2D BBS4 HADHA NMNAT1 USH1C AGBL5 PEX13 RHO SPATA7 NR2E3 PCARE MAK MMP19 MFRP ROM1 ROM1 HK1 RHO ARHGEF18 HGSNAT PROM1 SAG GUCA1A ESPN AHR GRK1 FSCN2 CACNA2D4 PEX19 USH2A CA4 PDE6B PEX5 USH1G GPR179 PROM1 TTC8 GUCY2D IMPDH1 CRB1 PROM1 GRM6 CRX AIPL1 RGR AHR PRPF4 CDH23 KLHL7 IMPG2 SEMA4A USH2A CFAP410 LRAT WHRN NR2E3 KIAA1549 CERKL NMNAT1 SLC24A1 CA4 SCAPER CRX PEX14 KIAA1549 PRPF31 CRX AIPL1 PRPF6 FAM161A LRIT3 HSD3B7 PRPF8 MYO7A PRPF31 PEX11B RAB28 PRPF4 ARSG RDH5 ARHGEF18 PRPH2 PEX7 PDZD7 NRL LRAT PDE6G CDHR1 MYO6 CFAP410 RDH12 ARL6 CLCC1 PRPH2 PRPF3 RHO LRIT3 EYS PEX1 SEMA4A MYO7A ADGRV1 CDHR1 ARL3 PRPH2 CWC27 RLBP1 RNU4ATAC GNAT1 CRX RPGRIP1 C8ORF37 CNGB1 PEX7 CLRN1 PHYH NYX KCNV2 PHYH RPE65 IDS SLC24A1
Protein Mutations 1
S100A