SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02719093

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery

Two common SNPs are located in linkage disequilibrium in exon 10 of FSHR. The 2039 A>G variant is regularly analyzed to characterize the exon 10 haplotype. In the last years, it has been showed an influence of FSHR 2039 A>G on FSH levels, testicular volume, sperm concentration and the total sperm count. A recent Cochrane review showed a beneficial effect on live birth and pregnancy of gonadotrophin treatment for men with idiopathic male factor subfertility. Which FSHR polymorphism can benefit from FSH treatment is clinically very important, in particular for what regards nonidiopathic patients. In many andrological units, patients underwent adiuvant therapy with purified or recombinant FSH after varicocelectomy. FSH treatment in patients after varicocelectomy could improve spermatogenesis, but there aren't multicentric trials that confirm its validity. Usually, in our hospital only patients with a morphologic aspect of hypospermatogenesis underwent therapy with purified or recombinant FSH, because this therapy is not much useful in patient with Partial Sertoli-cell-only syndrome or maturation arrest. The purpose of our study is to correlate "non responder" patients who underwent FSH adiuvant therapy after varicocele surgery with a p.N680S FSHR polymorphism. Moreover the investigators suppose that "non responder" patients can beneficiate from a high-dose therapy with FSH. This is a prospective intervention study in which are recruited males with OligoAstenoTeratozoospermic (OAT) and varicocele. The partecipants will undergo subinguinal microsurgical varicocelectomy (Marmar technique) and needle aspiration testicular cytology (Foresta technique).

NCT02719093 Infertility, Male Varicocele
MeSH: Infertility Varicocele Infertility, Male
HPO: Infertility Male infertility Varicocele

1 Interventions

Name: recombinant FSH

Description: Subcutaneous injection

Type: Drug

recombinant FSH


Primary Outcomes

Description: Response to therapy indicated by significant increase in sperm count (million/ejaculate) according to WHO Laboratory Manual for the Examination and Processing of Human Semen (5th edn.)

Measure: Total sperm count

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in sperm concentration (million/mL) according to WHO Laboratory Manual for the Examination and Processing of Human Semen (5th edn.)

Measure: Sperm concentration

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in total motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Total motility

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in progressive motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Progressive motility

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Description: Response to therapy indicated by significant increase in sperm morphology (normal forms) (%) according to WHO Laboratory Manual for the Examination and

Measure: Sperm morphology (normal forms)

Time: After subinguinal microsurgical varicocelectomy and therapy with recombinant follitropin alfa 150UI i.m. 3 times/week for three months

Secondary Outcomes

Description: Response to therapy indicated by significant increase in sperm count (million/ejaculate) according to WHO Laboratory Manual for the Examination and

Measure: Total sperm count

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in sperm concentration (million/mL) according to WHO Laboratory Manual for the Examination and

Measure: Sperm concentration

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in total motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Total motility

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in progressive motility (%) according to WHO Laboratory Manual for the Examination and

Measure: Progressive motility

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Description: Response to therapy indicated by significant increase in sperm morphology (normal forms) (%) according to WHO Laboratory Manual for the Examination and

Measure: Sperm morphology (normal forms)

Time: After a daily dose of rFSH 150 UI for additional three months in "non responders" patients to the first three months of therapy with recombinant follitropin alfa 150UI i.m. 3 times/week

Purpose: Treatment

Single Group Assignment


There is one SNP

SNPs


1 rs6166

Infertility, Male Varicocele Infertility Varicocele Infertility, Male Two common SNPs (c.919 A>G, pT307A, rs 6165 and c.2039 A>G, p.N680S, rs6166) are located in linkage disequilibrium in exon 10 of FSHR.



HPO Nodes


HPO:
Infertility
Genes 133
HJV MKRN3 SOX3 SNORD115-1 SOX9 AMH PATL2 PLCZ1 AMHR2 KLHL10 WDR66 MAGEL2 CFAP300 SRA1 ZMPSTE24 WWOX LHX4 GCM2 STUB1 DNAAF4 TUBB8 AXL DAZ4 CYP19A1 RBMY1A1 CFTR DUSP6 TSGA10 GATA4 WT1 MEIOB CCNO IPW PWRN1 CDH23 POU1F1 SRY DAZ1 NDN LRRC6 CFAP43 TSPY1 H6PD HUWE1 TEX14 NR3C1 USP9Y TEX11 CCDC141 GBA2 ZP3 QRICH2 CFAP298 CDC14A AR CCDC39 AK7 SNORD116-1 HESX1 FGF17 MAP3K1 ZFPM2 PGR MKRN3-AS1 DNAH1 FANCA DNAJB13 LHCGR ZP1 FSIP2 DNAAF5 DNAAF3 DNAI1 AURKC USP8 SLC26A8 PTPN11 OTX2 POLR3B CATSPER1 FOXL2 DMRT3 DHH LMNA BRAF CATSPER2 BRDT ZMYND10 RSPH1 ADGRG2 WDR11 FEZF1 GLI2 SPATA16 FSHB SPRY4 VAMP7 NR0B1 SUN5 DNAI2 NPAP1 TLE6 SOHLH1 RNF216 DDX3Y PIH1D3 WEE2 NR5A1 FLRT3 CTNS PWAR1 STRC HERC2 HSD17B3 DAZ3 DAZ2 DNAAF1 PLIN1 CFAP44 MAP2K1 IL17RD DNAH9 NANOS1 GNRH1 GNRHR SNRPN PRLR SEPTIN12 PMFBP1 CEP19 PROP1 SEMA3E CCDC40
Male infertility
Genes 41
GATA4 WT1 LHCGR SOX9 DNAAF5 DNAI1 AURKC AMH AMHR2 DDX3Y SRY DAZ1 NR5A1 PTPN11 CTNS CATSPER1 TSPY1 STRC DMRT3 WWOX DAZ3 USP9Y GCM2 TEX11 DAZ2 BRAF CATSPER2 MAP2K1 ADGRG2 DAZ4 CYP19A1 RBMY1A1 MAP3K1 ZFPM2 CFTR PMFBP1 VAMP7 NR0B1 SUN5 DNAI2 FANCA
Varicocele
Genes 4
PTEN PIK3CA AKT1 SRCAP