SNPMiner Trials (Home Page)
Report for SNP rs12676
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Choline Dehydrogenase and Sperm Function: Effects of Betaine
The ability of sperm to swim is important for normal fertility. Men with a genetic variation in the gene coding for Choline Dehydrogenase (CHDH) have decreased energy production by sperm, and their sperm do not swim normally. The metabolic product of this gene is a nutrient called betaine (found normally in the diet as a part of many foods such as spinach, beets and grain products). This study tests whether treatment with betaine is safe and whether it can normalize energy production in sperm of these men and restore normal swimming ability.
NCT02122211 Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676 Male Infertility Drug: Betaine supplement MeSH:Infertility Infertility, Male
HPO:Infertility Male infertility
Inclusion Criteria: - 18 - 60 year old men of multiple races and ethnicities - Estimated dietary intake of betaine of <150 mg/day - Carrying two alleles of the rs 12676 single nucleotide polymorphism Exclusion Criteria: - Cystathionine-beta-synthase (CBS) deficiency - Currently taking betaine supplements - Currently receiving chemotherapy, radiation or any gonadotoxic drug - Female gender Inclusion Criteria: - 18 - 60 year old men of multiple races and ethnicities - Estimated dietary intake of betaine of <150 mg/day - Carrying two alleles of the rs 12676 single nucleotide polymorphism Exclusion Criteria: - Cystathionine-beta-synthase (CBS) deficiency - Currently taking betaine supplements - Currently receiving chemotherapy, radiation or any gonadotoxic drug - Female gender Men Carrying 2 Minor Alleles for Choline Dehydrogenase rs12676 Male Infertility Infertility Infertility, Male Unidentified genetic aberrations such as single nucleotide polymorphisms (SNPs) may be the underlying cause of many cases of idiopathic infertility in men.
5-9% of men have 2 alleles for a functional SNP in CHDH (rs12676), and they have low sperm adenosine triphosphate (ATP) concentrations with impaired sperm motility (asthenospermia) that should decrease fertility.
This purpose of this study is to conduct a phase I study of betaine treatment in men with 2 minor alleles for CHDH rs12676 to determine whether betaine supplementation is safe and to obtain preliminary data on the effects of betaine on sperm mitochondrial ATP concentrations and sperm motility in these men.
Primary Outcomes
Description: Assessed using Computer-Aided Sperm Analysis methodology
Measure: Change in sperm motility from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment periodMeasure: Change in sperm count from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Description: Using Seahorse biochemical function assessment
Measure: Change in sperm mitochondrial function from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment periodDescription: Using light and transmission electron microscopy
Measure: Change in sperm ultrastructure from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment periodDescription: Assessed by Western Blot analysis
Measure: Change in sperm choline dehydrogenase concentration from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment periodMeasure: Change in sperm betaine concentration from baseline Time: On day zero, day 10, day 30, day 50 and at the end of the 75 day treatment period
Secondary Outcomes
Description: Assessed using 3-day food records
Measure: Betaine intake Time: At screening and every 21 days during the studyMeasure: Change in complete blood count from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in uric acid concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in alkaline phosphatase concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in aspartate transaminase concentration from baseline Time: At 0,10, 30, 50, and 75 days on treatment
Measure: Change in lactic dehydrogenase concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in bilirubin concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in blood urea nitrogen concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in creatinine concentration from baseline Time: At 0, 10, 30, 50, and 75 days on treatment
Measure: Change in urinalysis parameters from baseline Time: At 0, 10, 30, 50, and 75 days on treatment