SNPMiner Trials by Shray Alag


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Report for SNP rs6166

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Significance of the FSH Receptor Polymorphism p.N680S for the Efficacy of FSH Therapy of Idiopathic Male Infertility: a Pharmacogenetic Approach

CONDITION: Idiopathic male infertility In men with idiopathic infertility, the sperm DNA fragmentation index (DFI) within 12 weeks of FSH therapy and 12 weeks follow-up improves depending on the FSHR genotype as assessed by the non-synonymous SNP rs6166 (wild type or p.N680S). This is a phase II b, multicenter, prospective, open label, one arm, clinical trial stratified according to the patient's genotype. INTERVENTION: FSH therapy (150 I.U. sc every other day for 12 weeks) in infertile men who are homozygous for the wild-type FSHR or the p.N680S allele of the FSHR. Duration of intervention per patient: 12 weeks Primary efficacy endpoint: Sperm DFI. Number of patients with an improvement in DFI > 60% Key secondary endpoint(s): pregnancy, semen parameters, serum levels of inhibin B and AMH.

NCT02349945 Male Infertility Drug: follitropin alpha
MeSH:Infertility Infertility, Male
HPO:Infertility Male infertility

FSH Receptor Polymorphism p.N680S and Efficacy of FSH Therapy CONDITION: Idiopathic male infertility In men with idiopathic infertility, the sperm DNA fragmentation index (DFI) within 12 weeks of FSH therapy and 12 weeks follow-up improves depending on the FSHR genotype as assessed by the non-synonymous SNP rs6166 (wild type or p.N680S).

In women, the response to FSH varies depending on the FSH receptor (FSHR) genotype, as determined by the non-synonymous SNP rs6166, which exchanges the amino acid Asn to Ser in codon 680.

The investigators hypothesize that the variable response to FSH in unselected infertile men is due to a different individual sensitivity to FSH as determined by the common FSHR polymorphism rs6166.

Primary Outcomes

Measure: Sperm DFI

Time: "after 12 weeks"

Secondary Outcomes

Measure: Sperm DFI (DNA Fragmentation Index)

Time: "Baseline"

Measure: Sperm DFI

Time: "after 24 weeks"

Other Outcomes

Measure: Pregnancy rate

Time: "baseline"

Measure: Pregnancy rate

Time: "After 12 weeks"

Measure: Pregnancy rate

Time: "after 24 weeks"

Measure: Sperm count

Time: "baseline"

Measure: Sperm count

Time: "after 12 weeks"

Measure: Sperm count

Time: "after 24 weeks

Description: Serum dosage

Measure: Inhibin B

Time: "baseline"

Description: Serum dosage

Measure: Inhibin B

Time: "after 12 weeks"

Description: Serum dosage

Measure: Inhibin B

Time: "after 24 weeks"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: Anti-Mullerian Hormone (AMH)

Time: "baseline"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: AMH

Time: "after 12 weeks"

Description: Serum dosage of Anti-Mullerian Hormone

Measure: AMH

Time: "after 24 weeks"

2 Assessing the Relation Between Hormone Receptors Gene Polymorphism and Ovarian Stimulation Response in In Vitro Fertilization (IVF) Program

The aim of this study is to assess the role of AMH in prediction of poor ovarian response as well as the relation between ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs and the poor response in Egyptian women undergoing IVF procedure. Discovering the genetic variants associated with ovarian response is an important step towards individualized pharmacogenetic protocols of ovarian stimulation.

NCT02640976 Infertility Drug: Human menopausal gonadotrophin (HMG) Drug: GnRH antagonist Cetrorelix Drug: Human chorionic gonadotrophin (hCG)
MeSH:Infertility
HPO:Infertility

Poor Ovarian Stimulation Response in In Vitro Fertilization (IVF) Program The aim of this study is to assess the role of AMH in prediction of poor ovarian response as well as the relation between ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs and the poor response in Egyptian women undergoing IVF procedure.

36 hours later, oocyte retrieval will be performed and will be guided by transvaginal ultrasound.. Detection of the single nucleotide polymorphisms ESR2(+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR).

Detection of the polymorphisms ESR2 (+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR).

Primary Outcomes

Description: when at least 3 follicles will reach 17 mm in diameter, ovulation will be triggered by a single intra-muscular injection of 10,000 IU of hCG [Choriomon® 5000 IU ampoules, IBSA institut]. 36 hours later, oocyte retrieval will be performed and will be guided by transvaginal ultrasound.

Measure: number of oocytes collected

Time: 3 weeks from of start of ICSI cycle

Secondary Outcomes

Description: By using PCR, we will indicate the genotype in each individual and determine the probability of the poor ovarian response.

Measure: Detection of the single nucleotide polymorphisms ESR2(+1730G>A) (rs4986938), FSHR p.Thr307Ala (c.919A>G, rs6165) and FSHR p.Asn680Ser (c.2039A>G, rs6166) SNPs will be performed using the TaqMan system by real-time polymerase chain reaction (PCR)

Time: Within 1 week

Other Outcomes

Description: Based on FSH level, the dose of HMG ( Merional) will be adjusted for each individual.

Measure: Laboratory analysis of basal follicle stimulating hormone level for each individual will be measured by enzyme-linked immunosorbent assay (ELISA)

Time: Done within 3 months preceeding the ICSI cycle

Description: Based on AMH level, the dose of HMG (Merional) will be adjusted for each individual.

Measure: Laboratory analysis of anti-mullerian hormone level (AMH) will be measured by ELISA technique for each individual.

Time: Done within 3 months preceeding the ICSI cycle.

3 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 Drug: recombinant FSH
MeSH:Infertility Varicocele Infertility, Male
HPO:Infertility Male infertility Varicocele

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.

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


HPO Nodes