SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation N680S

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 4 clinical trials

Clinical Trials


1 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 Ovarian Hyperstimulation Syndrome
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

2 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 antim├╝llerian 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

3 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

4 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


HPO Nodes


Female infertility
Genes 6
CYP19A1 PGR TLE6 HUWE1 FOXL2 TUBB8
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