Ignite Creation Date:
2024-05-05 @ 4:55 PM
Last Modification Date:
2024-10-26 @ 9:25 AM
Study NCT ID:
NCT00341120
Status:
COMPLETED
Last Update Posted:
2018-04-05
First Post:
2006-06-19
Brief Title:
Genetic Causes of Male Infertility
Sponsor:
Eunice Kennedy Shriver National Institute of Child Health and Human Development NICHD
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Methylenetetrahydrofolate Reductase C677T Mutation Other Variant Genotypes and Male Infertility
Status:
COMPLETED
Status Verified Date:
2012-08-29
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
This study is being conducted at the University Hospital of Lund University in Malmo Sweden in collaboration with the US National Institute of Child Health and Human Development The study will try to identify genetic causes of impaired sperm production and male infertility It will focus on the possible role of the MTHFR and CBS genes which regulate absorption and metabolism of the vitamin folate in infertility If the nutritional intake or metabolism of this vitamin is related to male infertility then this cause of infertility would be potentially curable
Fertile and infertile men between 20 and 45 years of age may be eligible for this study Criteria include the following
Fertile men men whose partners are younger than age 40 and are attending Lund University prenatal clinic who have fathered one or more pregnancies and who stopped birth control to achieve the present pregnancy who achieved the present pregnancy in less than 12 months of unprotected intercourse
Infertile men men referred to the Scandian Andrology Centre whose infertility is unexplained whose partners are younger than age 40 and who have had regular sexual intercourse without contraception for at least 12 months without achieving a pregnancy
All participants will have the following tests and procedures
Complete a questionnaire providing information about their reproductive and medical history and recent dietary history
Provide blood samples for analysis of red cell folate plasma folate plasma homocysteine plasma B12 and for genetic evaluation
Provide a semen sample for routine analysis including volume sperm concentration sperm motility and sperm morphology
In addition infertile men will undergo a physical examination and review of their medical records
Fertile and infertile men between 20 and 45 years of age may be eligible for this study Criteria include the following
Fertile men men whose partners are younger than age 40 and are attending Lund University prenatal clinic who have fathered one or more pregnancies and who stopped birth control to achieve the present pregnancy who achieved the present pregnancy in less than 12 months of unprotected intercourse
Infertile men men referred to the Scandian Andrology Centre whose infertility is unexplained whose partners are younger than age 40 and who have had regular sexual intercourse without contraception for at least 12 months without achieving a pregnancy
All participants will have the following tests and procedures
Complete a questionnaire providing information about their reproductive and medical history and recent dietary history
Provide blood samples for analysis of red cell folate plasma folate plasma homocysteine plasma B12 and for genetic evaluation
Provide a semen sample for routine analysis including volume sperm concentration sperm motility and sperm morphology
In addition infertile men will undergo a physical examination and review of their medical records
Detailed Description:
It is evident that genetic variation plays a substantial role in the etiology of male infertility Studies of children fathered through intracytoplasmic sperm injection or ICSI have revealed mutations on the AZF region of the Y chromosome linked to male infertility Mutations of other genes may also be involved Candidates would include genes for the androgen receptor follicle-stimulating hormone and luteinizing hormone and genes involved in the regulation of spermatogenesis and sperm motility Mutations in mitochondrial DNA have been linked to poor sperm motility and raise the possibility that some types of male subfertility may be inherited only through the female line
We propose to assess the role of folatehomocysteine status and MTHFR and CBS gene variants in infertile men in Sweden with no known cause for their infertility and whose wivespartners appear to be fertile We propose to perform the study in Sweden since Sweden unlike the US at present does not mandate the enrichment of flour or other foodstuffs with folate
We propose to assess the role of folatehomocysteine status and MTHFR and CBS gene variants in infertile men in Sweden with no known cause for their infertility and whose wivespartners appear to be fertile We propose to perform the study in Sweden since Sweden unlike the US at present does not mandate the enrichment of flour or other foodstuffs with folate
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 03-CH-N076 | None | None | None |