Ignite Creation Date:
2025-12-25 @ 4:17 AM
Ignite Modification Date:
2025-12-26 @ 3:17 AM
Study NCT ID:
NCT00341120
Status:
COMPLETED
Last Update Posted:
2018-04-05
First Post:
2006-06-19
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genetic Causes of Male Infertility
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Ireland', 'United States']}, 'conditionBrowseModule': {'meshes': [{'id': 'D007248', 'term': 'Infertility, Male'}], 'ancestors': [{'id': 'D005832', 'term': 'Genital Diseases, Male'}, {'id': 'D000091662', 'term': 'Genital Diseases'}, {'id': 'D000091642', 'term': 'Urogenital Diseases'}, {'id': 'D007246', 'term': 'Infertility'}, {'id': 'D052801', 'term': 'Male Urogenital Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'enrollmentInfo': {'type': 'ACTUAL', 'count': 400}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2003-01-02'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2012-08-29', 'completionDateStruct': {'date': '2012-08-29'}, 'lastUpdateSubmitDate': '2018-04-04', 'studyFirstSubmitDate': '2006-06-19', 'studyFirstSubmitQcDate': '2006-06-19', 'lastUpdatePostDateStruct': {'date': '2018-04-05', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2006-06-21', 'type': 'ESTIMATED'}}, 'conditionsModule': {'keywords': ['Genotypes', 'Mutation', 'Folate', 'Male Infertility', 'Nutrition'], 'conditions': ['Male Infertility']}, 'referencesModule': {'references': [{'pmid': '10802517', 'type': 'BACKGROUND', 'citation': 'Ma K, Mallidis C, Bhasin S. The role of Y chromosome deletions in male infertility. Eur J Endocrinol. 2000 May;142(5):418-30. doi: 10.1530/eje.0.1420418.'}, {'pmid': '11418145', 'type': 'BACKGROUND', 'citation': 'Ford WC. Biological mechanisms of male infertility. Lancet. 2001 Apr 21;357(9264):1223-4. doi: 10.1016/s0140-6736(00)04452-4. No abstract available.'}, {'pmid': '10936107', 'type': 'BACKGROUND', 'citation': 'Ruiz-Pesini E, Lapena AC, Diez-Sanchez C, Perez-Martos A, Montoya J, Alvarez E, Diaz M, Urries A, Montoro L, Lopez-Perez MJ, Enriquez JA. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am J Hum Genet. 2000 Sep;67(3):682-96. doi: 10.1086/303040. Epub 2000 Aug 9.'}]}, 'descriptionModule': {'briefSummary': 'This study is being conducted at the University Hospital of Lund University in Malmo, Sweden, in collaboration with the U.S. 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.\n\nFertile and infertile men between 20 and 45 years of age may be eligible for this study. Criteria include the following:\n\n* 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.\n* 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.\n\nAll participants will have the following tests and procedures:\n\n* Complete a questionnaire providing information about their reproductive and medical history and recent dietary history;\n* Provide blood samples for analysis of red cell folate, plasma folate, plasma homocysteine, plasma B12, and for genetic evaluation;\n* Provide a semen sample for routine analysis, including volume, sperm concentration, sperm motility, and sperm morphology.\n\nIn addition, infertile men will undergo a physical examination and review of their medical records.', 'detailedDescription': '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.\n\nWe propose to assess the role of folate/homocysteine status and MTHFR and CBS gene variants in infertile men in Sweden with no known cause for their infertility and whose wives/partners appear to be fertile. We propose to perform the study in Sweden since Sweden, unlike the U.S., at present does not mandate the enrichment of flour or other foodstuffs with folate.'}, 'eligibilityModule': {'sex': 'MALE', 'stdAges': ['ADULT'], 'maximumAge': '45 Years', 'minimumAge': '20 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA INFERTILE MEN:\n\nReferred to the Scanian Andrology Centre.\n\nAge 20-45.\n\nPartner age less than 40.\n\nHaving had regular sexual intercourse without contraception for a year or more without achieving a pregnancy.\n\nEXCLUSION CRITERIA INFERTILE MEN:\n\nKlinefelters syndrome.\n\nHypogondotropic hypogonadism.\n\nY-chromosome microdeletion or abnormality.\n\nOther genetic cause for infertility.\n\nObstructive azoospermia.\n\nPartner with salpingitis.\n\nPartner with polycystic ovarian syndrome.\n\nPartner with disturbance of ovulation.\n\nPartner with endometriosis.\n\nHistory of cancer.\n\nHistory of treatment with cytotoxic drugs, irradiation, or sulfasalazopyrine.\n\nHistory of cryptorchidism.\n\nHistory of mumps orchitis.\n\nHistory of vasectomy.\n\nINCLUSION CRITERIA FERTILE MEN:\n\nPartner attending Lund University prenatal clinic.\n\nAge 20-45.\n\nPartner age less than 40.\n\nHaving fathered one or more pregnancies.\n\nHaving stopped birth control to achieve present pregnancy.\n\nHaving achieved present pregnancy in less than 12 months of unprotected intercourse.\n\nEXCLUSION CRITERIA FERTILE MEN:\n\nHistory of cancer.\n\nHistory of treatment with cytotoxic drugs, irradiation, or sulfasalazopyrine.\n\nHistory of cryptorchidism.\n\nHistory of mumps orchitis.\n\nHaving sought or partner having sought treatment or investigation for fertility.'}, 'identificationModule': {'nctId': 'NCT00341120', 'briefTitle': 'Genetic Causes of Male Infertility', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Methylenetetrahydrofolate Reductase C677T Mutation, Other Variant Genotypes, and Male Infertility', 'orgStudyIdInfo': {'id': '999903076'}, 'secondaryIdInfos': [{'id': '03-CH-N076'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Malmo', 'country': 'Sweden', 'facility': 'Malmo University Hospital', 'geoPoint': {'lat': 55.60587, 'lon': 13.00073}}], 'overallOfficials': [{'name': 'Richard J Levine, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)', 'class': 'NIH'}}}}