SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation N312S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 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
Conditions
  1. antim├╝llerian Hormone and Gonadotrophin Receptor Polymorphism as Predictors of Ovarian Response

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 --- --- N312S ---

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.. Doses of gonadotrophin needed and polymorphisms. --- N312S ---

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

2 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
Conditions
  1. Female Infertility
Interventions
  1. Drug: Follitropin alpha
  2. 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 --- --- N312S ---

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

3 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
Conditions
  1. In Vitro Fertilization
  2. Controlled Ovarian Stimulation

Genotype of the N312S polymorphism of the LHCGR gene. --- N312S ---

Genotype of the N312S polymorphism of the LHCGR gene will be tested on blood samples. --- N312S ---

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