SNPMiner Trials by Shray Alag

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Report for Mutation S680N

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 Prospective, Randomized Open Trial to Evaluate the Efficacy of an Ovarian Stimulation Protocol Based on FSH Receptor Genotype

Available data from in vitro studies and clinical trials indicate that genetic factors play a significant role in the success of controlled ovarian stimulation (COS) prior to in vitro fertilization - embryo trandfer (IVF-ET). Women with the FSHR Ser680Asn Ser/Ser genotype make up between 13% and 26% of women undergoing IVF-ET and are characterised by higher basal FSH serum concentrations, the need for a higher amount of FSH for COS, and a higher risk of poor response to COS and cycle cancellation. The investigators therefore intend to perform a study to investigate whether a dose-intensified COS protocol based on FSHR genotype status in women with the FSHR Ser680Asn Ser/Ser genotype is more effective than routine management in terms of - the mean number of follicles - the mean number of embryos - the rate of poor responders - the rate of women with cycle cancellations, and v) the clinical pregnancy rates. Eligible women will be randomized to a stimulation protocol characterised by a longer duration and increased dosage of FSH stimulation (group A) or a standard stimulation protocol (group B).

NCT00749853 Sterility Drug: follicle stimulating hormone Drug: follicle stimulating hormone
MeSH:Infertility
HPO:Infertility

Women with the FSHR Ser680Asn Ser/Ser genotype make up between 13% and 26% of women undergoing IVF-ET and are characterised by higher basal FSH serum concentrations, the need for a higher amount of FSH for COS, and a higher risk of poor response to COS and cycle cancellation. --- Ser680Asn ---

The investigators therefore intend to perform a study to investigate whether a dose-intensified COS protocol based on FSHR genotype status in women with the FSHR Ser680Asn Ser/Ser genotype is more effective than routine management in terms of - the mean number of follicles - the mean number of embryos - the rate of poor responders - the rate of women with cycle cancellations, and v) the clinical pregnancy rates. --- Ser680Asn ---

Primary Outcomes

Measure: clinical pregnancy rate

Time: 3 months

Secondary Outcomes

Measure: follicle count, cycle cancellation rate, poor responder rate

Time: 2 months

HPO Nodes

HP:0000789: Infertility
Genes 207
CCDC103 ZMYND10 MKRN3-AS1 DNAI1 SPRY4 DNAAF2 AR RSPH4A CCNO RSPH1 GLI2 DHH CYP19A1 LRRC56 PWRN1 DAZ1 H6PD AK7 WEE2 TGFB1 CCDC39 FLRT3 DNAH11 CATSPER1 SRY DNAI2 USP8 SPAG1 ZMPSTE24 ZP3 HYDIN RSPH3 VAMP7 TEX11 CDH23 DNAH9 TSGA10 DNAAF4 FCGR2A DNAI2 DNAH5 WT1 GCM2 HERC2 HUWE1 DNAH1 DNAI1 DNAH1 RSPH3 DNAH9 CCNO CEP19 CCDC39 NME8 CFAP44 DNAAF4 TLE6 DNAAF1 AR DDX3Y MEI1 TEX14 GBA2 WWOX AURKC NR3C1 LMNA PADI6 HSD17B3 DUSP6 CATSPER2 RSPH1 SYCP2 PATL2 PGR PROP1 FSIP2 SUN5 SNORD116-1 CCDC114 IPW GBA2 AMH ARMC4 DNAH1 ZP2 PRLR CFAP300 SUN5 FOXL2 POLR3B STRC SPEF2 ZFPM2 PRLR MKRN3 MAP3K1 OFD1 CCDC151 FOXJ1 GNRH1 PROP1 CDH23 SOX9 ZMYND10 NDN ZP1 USP9Y GATA4 ADGRG2 NANOS1 GAS2L2 SNORD115-1 AXL DNAAF6 PPP2R3C AMHR2 NR5A1 CFTR SEPTIN12 RBMY1A1 WDR11 CFAP300 DRC1 SEMA3E STK36 PMFBP1 SOX3 DNAAF3 TSPY1 DNAJB13 CTNS MAP2K1 DAZ3 CFAP298 RSPH9 IL17RD RPGR DNAL1 CFAP298 BRAF QRICH2 DMRT3 SRA1 CFAP43 LHCGR DNAAF1 CATSPER2 GAS2L2 CFAP221 SOHLH1 CFAP251 NR3C1 DNAAF6 MAGEL2 DNAAF5 RNF216 TTC25 SNRPN DNAAF3 PWAR1 FOXA2 FGF17 MEIOB SRY SLC26A8 TUBB8 FANCA HESX1 PMFBP1 NPAP1 PLIN1 BRDT HJV POU1F1 CCDC40 GNRHR SPATA16 HSD17B3 KLHL10 PANX1 DAZ2 CDC14A LRRC6 FSHB AR OTX2 CCDC141 DNAAF5 GAS8 CFTR ARMC2 FEZF1 PTPN11 NR0B1 MCIDAS CATSPER2 PLCZ1 CCDC40 LHX4 STRC STUB1 DAZ4 LRRC6 STRC DNAJB13 CCDC65
Protein Mutations 7
C677T G1691A G71A L24E N312S N680S S680N
SNP 5
rs12676 rs4986938 rs6165 rs6166 rs66554220