SNPMiner Trials by Shray Alag


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Report for Mutation N680S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 5 clinical trials

Clinical Trials


1 Prospective, Randomized Open Trial to Evaluate the Efficacy of Highly Purified Urinary FSH Versus Recombinant FSH in Oocyte Donors Undergoing Controlled Ovarian Stimulation Based on Receptor N680S FSH Gene Polymorphism. Genodon Trial

Exploratory, prospective, randomized, comparative, open trial with control group treated to assess whether the effective use of urinary FSH (uFSH) or recombinant FSH (rFSH) can be influenced by genotype of receptor N680S FSH Gene Polymorphism.

NCT02625519 Reproductive Techniques, Assisted Drug: Urinary follicle-stimulating hormone Drug: Recombinant follicle-stimulating hormone

Prospective, Randomized Open Trial to Evaluate the Efficacy of Highly Purified Urinary FSH Versus Recombinant FSH in Oocyte Donors Undergoing Controlled Ovarian Stimulation Based on Receptor N680S FSH Gene Polymorphism. --- N680S ---

Efficacy of Urinary Vs Recombinant FSH in Oocyte Donors Based on Receptor N680S FSH Gene Polymorphism (Genodon Trial) Exploratory, prospective, randomized, comparative, open trial with control group treated to assess whether the effective use of urinary FSH (uFSH) or recombinant FSH (rFSH) can be influenced by genotype of receptor N680S FSH Gene Polymorphism. --- N680S ---

Efficacy of Urinary Vs Recombinant FSH in Oocyte Donors Based on Receptor N680S FSH Gene Polymorphism (Genodon Trial) Exploratory, prospective, randomized, comparative, open trial with control group treated to assess whether the effective use of urinary FSH (uFSH) or recombinant FSH (rFSH) can be influenced by genotype of receptor N680S FSH Gene Polymorphism. --- N680S --- --- N680S ---

Inclusion Criteria: - Be considered eligible to get into the oocyte donation program of Instituto Bernabeu - Age between 18 and 30 years - Body Mass Index over 18 and under 28 - Antral follicle count greater than 9 and less than 25 (adding both ovaries) - Patients starting ovarian stimulation with 225 IU of FSH - Presence of both ovaries - Ability to participate and comply with the study protocol - Signing the written consent form - Not having received treatment with ovulation stimulators in the 3 months prior to stimulation Exclusion Criteria: - Not suitable for inclusion in the oocyte donation program of Institute Bernabeu - Concurrent participation in another study Inclusion Criteria: - Be considered eligible to get into the oocyte donation program of Instituto Bernabeu - Age between 18 and 30 years - Body Mass Index over 18 and under 28 - Antral follicle count greater than 9 and less than 25 (adding both ovaries) - Patients starting ovarian stimulation with 225 IU of FSH - Presence of both ovaries - Ability to participate and comply with the study protocol - Signing the written consent form - Not having received treatment with ovulation stimulators in the 3 months prior to stimulation Exclusion Criteria: - Not suitable for inclusion in the oocyte donation program of Institute Bernabeu - Concurrent participation in another study Reproductive Techniques, Assisted The aim of this study is to determine whether the number of oocytes obtained in women oocyte donors may be different with the use of rFSH or uFSH based on receptor N680S FSHR gene polymorphism. --- N680S ---

Primary Outcomes

Description: number of cumulus-oocyte complexes obtained by follicle puncture at the end of ovarian stimulation

Measure: number of cumulus-oocyte complexes obtained

Time: through study completion, an average of 2 weeks

Secondary Outcomes

Description: number of metaphase II (MII) oocytes obtained by follicle puncture at the end of ovarian stimulation

Measure: number of metaphase II (MII) oocytes

Time: through study completion, an average of 2 weeks

Description: number of useful oocytes after artificial insemination or microinjection

Measure: number of useful oocytes (inseminated or microinjected)

Time: through study completion, an average of 2 weeks

Description: mean number of days between the start of ovarian stimulation until the day of the follicular puncture

Measure: duration of stimulation (days)

Time: through study completion, an average of 2 weeks

Description: FSH treatment units administrated per oocyte obtained

Measure: FSH treatment units obtained by oocyte

Time: through study completion, an average of 2 weeks

Description: FSH treatment cost per oocyte obtained

Measure: FSH treatment cost per oocyte obtained

Time: through study completion, an average of 2 weeks

Description: fertilization rate at 18 hours post-insemination

Measure: fertilization rate

Time: through study completion, an average of 2 weeks

Description: occurrence of side effects associated with urinary FSH and recombinant FSH

Measure: occurrence of side effects

Time: through study completion, an average of 2 weeks

2 Genetic Variation in Gonadotropin and Gonadotropin Receptor Genes as a Causative Factor of Suboptimal Response Following Ovarian Stimulation for IVF/ICSI. A Prospective Cohort Study

To evaluate the difference in the prevalence of the main FSHR polymorphism (ASN680Ser), as well as other, less studied, gonadotropin polymorphisms between ovarian response groups, following ovarian stimulation

NCT03007043 Fertility Disorders Other: blood sample

Genetic Variation in Gonadotropin and Gonadotropin Receptor Genes and Suboptimal Response To evaluate the difference in the prevalence of the main FSHR polymorphism (ASN680Ser), as well as other, less studied, gonadotropin polymorphisms between ovarian response groups, following ovarian stimulation prevalence of the main FSH receptor polymorphism. --- ASN680Ser ---

Primary Outcomes

Measure: prevalence of the main FSH receptor polymorphism

Time: 12 months

3 Impact of Gonadotrophin REceptor Polimorphisms on the Relationship Between Serum AMH and Ovarian Response

Aim of study: To compare the relationship between serum AMH and ovarian response for IVF with the GnRH antagonist protocol in patients who are carriers of FSH and/or LH receptor polymorphisms with those that are not.

NCT03388099 antimüllerian Hormone and Gonadotrophin Receptor Polymorphism as Predictors of Ovarian Response

To compare the relationship between serum AMH and ovarian response for IVF with the GnRH antagonist protocol in patients who are carriers of FSH and/or LH receptor polymorphisms with those that are not.. polymorphisms in the FSH receptor (FSHR) variant N680S. --- N680S ---

To define the incidence of carriers of polymorphisms in the FSH receptor (FSHR) variant N680S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.. polymorphisms in the LH receptor (LHR) variant N312S. --- N680S ---

Primary Outcomes

Description: To compare the relationship between serum AMH and ovarian response for IVF with the GnRH antagonist protocol in patients who are carriers of FSH and/or LH receptor polymorphisms with those that are not.

Measure: Gonadotrophin receptor polymorphisms and ovarian response and AMH value

Time: 1 year

Secondary Outcomes

Description: To define the incidence of carriers of polymorphisms in the FSH receptor (FSHR) variant N680S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.

Measure: polymorphisms in the FSH receptor (FSHR) variant N680S

Time: 1 year

Description: To define the incidence of carriers of polymorphisms in the LH receptor (LHR) variant N312S (homozygous and heterozygous) among women undergoing ovarian stimulation for IVF.

Measure: polymorphisms in the LH receptor (LHR) variant N312S

Time: 1 year

Description: To analyse the doses of gonadotrophins needed for stimulation on each group of patients

Measure: Doses of gonadotrophin needed and polymorphisms

Time: 1 year

4 Prospective Randomised Clinical Study on Pharmacogenetics of Gonadotropin Receptors in Relation to Pregnancy and Life Birth Rate as Well as Unwanted Side Effects Such as Ovarian Hyper Stimulation Syndrome During Assisted Reproduction.

The aim is to be able to predict the hormonal response according to gonadotropin receptor genotype and hormone type used for treatment of women undergoing in vitro fertilization or egg donation. Outcome will be measured as pregnancy success, live born babies and unwanted side effects.

NCT03737253 Female Infertility Drug: Follitropin alpha Drug: Menotropin
MeSH: Infertility Infertility, Female
HPO: Female infertility Infertility

This assumption is supported by a recent study on more than 600 women undergoing in vitro fertilization, demonstrating that whereas only 10% of women with asparagine in both genes (FSHR N680S and LHR N312S) became pregnant, 40% of those with serine did (Lindgren I et al. --- N680S ---

Primary Outcomes

Description: Association between pregnancy rate and genotype is evaluated

Measure: Pregnancy

Time: up to 12 months after treatment

Secondary Outcomes

Description: Number of eggs developed in response to drug according to genotype is measured

Measure: Number of oocytes

Time: up to 6 months after treatment

Description: Live birth rate according to genotype is analyzed

Measure: live birth

Time: up to 12 months after treatment

Other Outcomes

Description: Association between overreaction to hormonal stimulation and genotype is analysed

Measure: Ovarian hyper stimulation syndrome

Time: Up to 6 months after treatment

Description: No or poor development of eggs in response to drug is analysed, genotype taken into account

Measure: Poor response

Time: Up to 6 months after treatment

5 Study of the N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in Controlled Ovarian Stimulation

This project wants to determinate whether there is a relationship between the N680S polymorphism genotype of the FSHR gene and the nature of the FSH used in controlled ovarian stimulation. It is a non-interventional, observational, cross-sectional and retrospective, national and multicenter study, in which a genetic test will be carried out to determine the genotype of the N680S polymorphism in samples of blood of patients who have undergone two cycles of controlled ovarian stimulation in the last 8 months.

NCT04122729 In Vitro Fertilization Controlled Ovarian Stimulation

Study of the N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in Controlled Ovarian Stimulation. --- N680S ---

N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in COS This project wants to determinate whether there is a relationship between the N680S polymorphism genotype of the FSHR gene and the nature of the FSH used in controlled ovarian stimulation. --- N680S ---

N680S Polymorphism of the FSHR Gene and Its Relationship With the Type of Gonadotropin Used in COS This project wants to determinate whether there is a relationship between the N680S polymorphism genotype of the FSHR gene and the nature of the FSH used in controlled ovarian stimulation. --- N680S --- --- N680S ---

It is a non-interventional, observational, cross-sectional and retrospective, national and multicenter study, in which a genetic test will be carried out to determine the genotype of the N680S polymorphism in samples of blood of patients who have undergone two cycles of controlled ovarian stimulation in the last 8 months. --- N680S ---

Number of oocytes retrieved in each IVF/ICSI cycle with controlled ovarian stimulation used different nature of the FSH in each one (human FSH and recombinant FSH).. Genotype of the N680S polymorphism of the FSHR gene. --- N680S ---

Genotype of the N680S polymorphism of the FSHR gene will be tested on blood samples. --- N680S ---

Inclusion criteria: - Signature of Informed Consent - Age ≤ 37 years - BMI < 30 kg/m2 - Antral follicles count 1st cycle COS = 5-15 - Antimüllerian hormone basal 1st cycle COS > 1,1 ng/ml and < 3,1 ng/ml - COS protocol: equal starting dose in the 2 cycles of COS (150-225 UI/day) with dose adjustment from the 5th day of COS; pituitary suppression protocol in the 2 cycles of COS with GnRH antagonist with onset when ≥ 1 follicle of ≥ 14 mm in diameter or E2 ≤ 600 pg/ml; and triggering with hCGr or GnRH agonist - Optional the use of oral contraceptives (OC) (however, same in the 2 cycles) - 4-9 recovered oocytes in the 1st cycle of COS - ≤ 6 months between the 2 cycles of COS Exclusion criteria: - Use of the LH activity during the cycles of COS - Presence of severe male factor - Grade III-IV endometriosis - Patients with polycystic ovary syndrome, a history of uterine or ovarian surgeries, hydrosalpinx visible by ultrasound, or uterine fibroids measuring > 30 mm - Major systemic or uncontrolled endocrine-metabolic diseases affecting the pituitary gland, the thyroid gland, the adrenal glands, the pancreas, the liver, or the kidneys Inclusion criteria: - Signature of Informed Consent - Age ≤ 37 years - BMI < 30 kg/m2 - Antral follicles count 1st cycle COS = 5-15 - Antimüllerian hormone basal 1st cycle COS > 1,1 ng/ml and < 3,1 ng/ml - COS protocol: equal starting dose in the 2 cycles of COS (150-225 UI/day) with dose adjustment from the 5th day of COS; pituitary suppression protocol in the 2 cycles of COS with GnRH antagonist with onset when ≥ 1 follicle of ≥ 14 mm in diameter or E2 ≤ 600 pg/ml; and triggering with hCGr or GnRH agonist - Optional the use of oral contraceptives (OC) (however, same in the 2 cycles) - 4-9 recovered oocytes in the 1st cycle of COS - ≤ 6 months between the 2 cycles of COS Exclusion criteria: - Use of the LH activity during the cycles of COS - Presence of severe male factor - Grade III-IV endometriosis - Patients with polycystic ovary syndrome, a history of uterine or ovarian surgeries, hydrosalpinx visible by ultrasound, or uterine fibroids measuring > 30 mm - Major systemic or uncontrolled endocrine-metabolic diseases affecting the pituitary gland, the thyroid gland, the adrenal glands, the pancreas, the liver, or the kidneys In Vitro Fertilization Controlled Ovarian Stimulation The investigators want to investigate whether the N680S polymorphism of the FSRH gene could affects ovarian response with different nature of the FSH used (human FSH and recombinant FSH) in patients undergoing two consecutive cycles of IVF/ICSI with controlled ovarian stimulation. --- N680S ---

Primary Outcomes

Description: Number of oocytes retrieved in each IVF/ICSI cycle with controlled ovarian stimulation used different nature of the FSH in each one (human FSH and recombinant FSH).

Measure: Oocytes retrieved

Time: Through study completion, an average of 1 year

Description: Genotype of the N680S polymorphism of the FSHR gene will be tested on blood samples

Measure: Genotype of the N680S polymorphism of the FSHR gene

Time: Through study completion, an average of 1 year

Secondary Outcomes

Description: Genotype of the N312S polymorphism of the LHCGR gene will be tested on blood samples

Measure: Genotype of the N312S polymorphism of the LHCGR gene

Time: Through study completion, an average of 1 year


HPO Nodes


Female infertility
Genes 8
FOXL2 TLE6 TUBB8 ZP2 PANX1 HUWE1 PGR CYP19A1
Infertility
Genes 206
DNAH9 SNORD116-1 VAMP7 DNAH11 HJV PGR AXL SPAG1 PMFBP1 AR ADGRG2 SOX9 SEMA3E DNAAF3 GAS2L2 CCDC151 OTX2 STRC CFAP300 ZP3 ZMYND10 GATA4 HSD17B3 MKRN3 PMFBP1 DNAH1 CATSPER2 FSHB RSPH4A CFTR DUSP6 TEX11 NME8 DNAAF4 CEP19 SRY CCDC65 NR5A1 PROP1 HESX1 CFAP300 DNAI1 CDC14A MAP3K1 NR3C1 RSPH1 DNAH1 CCDC39 PWRN1 DNAL1 PATL2 GBA2 ZMYND10 LRRC6 FOXA2 QRICH2 CTNS DNAAF1 ZFPM2 GAS8 CFAP298 CFAP298 HSD17B3 CDH23 RBMY1A1 NR3C1 CATSPER2 GBA2 RNF216 ZP2 RSPH3 DNAAF2 PLCZ1 CCNO SRA1 DNAAF1 CCDC40 ZP1 TSGA10 DMRT3 DNAAF4 SNORD115-1 DNAH9 DNAI1 SRY DNAAF6 DNAH5 GCM2 DHH AR TTC25 FCGR2A FOXL2 SPEF2 IL17RD DNAAF5 HERC2 TEX14 CYP19A1 WWOX SNRPN AMHR2 ARMC4 FLRT3 NANOS1 IPW STRC SOHLH1 FANCA PROP1 DAZ2 MEI1 NPAP1 LMNA WDR11 HUWE1 CFAP221 KLHL10 PLIN1 DNAI2 TLE6 AMH PANX1 LHX4 GLI2 PRLR POLR3B WEE2 PADI6 DNAAF5 DAZ4 POU1F1 ARMC2 FGF17 STUB1 FOXJ1 SUN5 CFAP43 MAP2K1 CCNO FEZF1 DAZ3 TSPY1 RSPH1 DNAJB13 STK36 BRAF AURKC USP8 DNAH1 RSPH3 RSPH9 FSIP2 DRC1 LHCGR WDR66 CCDC103 TUBB8 AR DNAAF3 NDN LRRC56 LRRC6 MAGEL2 CCDC40 SOX3 MKRN3-AS1 SPRY4 DDX3Y PWAR1 SLC26A8 USP9Y DNAAF6 STRC GAS2L2 TGFB1 GNRH1 SPATA16 CCDC39 CDH23 PRLR H6PD WT1 NR0B1 OFD1 CFAP44 BRDT ZMPSTE24 MEIOB DNAI2 SEPTIN12 GNRHR CFTR CCDC141 PTPN11 CCDC114 DAZ1 PPP2R3C DNAJB13 RPGR CATSPER2 AK7 SUN5 CATSPER1 MCIDAS HYDIN