[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT07357701":3,"trial-entities:NCT07357701":84,"trial-summary:NCT07357701":88},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":10,"sponsor_name":12,"lead_sponsor_class":13,"has_dmc":14,"brief_summary":15,"detailed_description":16,"conditions":17,"keywords":21,"study_type":30,"primary_purpose":14,"phases":31,"enrollment_info":32,"interventions":35,"primary_outcomes":36,"secondary_outcomes":41,"sex":42,"minimum_age":43,"maximum_age":44,"healthy_volunteers":45,"eligibility_criteria":46,"std_ages":50,"locations":53,"central_contacts":70,"overall_officials":76,"references":79,"see_also_links":80},"NCT07357701","10002332","Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)","Identifying Genome Variants and Evaluating PRDM9 and piRNA Clusters as Candidates for Infertility in a Cohort of Individuals With Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)","RECRUITING","2031-01-01","2026-03-11","2026-03-16","Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",null,"Background:\n\nInfertility affects 1 in 6 people. Often, the causes of infertility are unknown. Treatments are successful in only about 50% of cases. Infertility caused by non obstructive azoospermia in males and primary ovarian insufficiency in females can have genetic causes. Researchers want to learn more about these genes.\n\nObjective:\n\nTo identify genes that may cause infertility.\n\nEligibility:\n\nAdult men and women with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI) of unknown cause.\n\nDesign:\n\nParticipants will provide a saliva sample. A kit will be sent to their home. The kit will contain a collection tube and a cotton swab. They will swirl the swab inside their mouth and then seal it in the tube. They will mail the tube back to the researchers.\n\nMale participants who are having a procedure done to collect tissue from their testes may opt to have leftover tissue provided to study researchers. This tissue would otherwise have been discarded. No new procedures will be performed just for this study.\n\nData may be collected from participants medical records.","Study Description:\n\nPRDM9 and the piRNA pathway have well established roles in meiosis and are known to cause infertility in mouse, yet have not been systematically evaluated for a role in human infertility. We will utilize a combination of genome sequencing, targeted PacBio sequencing, and in vitro assays to evaluate these compelling candidates as causative for human infertility. All participants will be asked to provide saliva or blood samples as a source of genomic DNA for sequencing. A small subset of participants who undergo surgery as part of their diagnosis and treatment plan will be asked to consent to research use of leftover testicular biopsies from these procedures.\n\nObjectives:\n\nPrimary Objective:\n\nTo determine the sequence of PRDM9 and noncoding piRNA clusters in a cohort of individuals with infertility. These loci are inherently unstable in the genome, and we hypothesize that sequence variants in these loci are causative for infertility.\n\nSecondary Objectives:\n\nIdentify genome variants in novel or previously reported infertility candidate genes. Genome variants in hundreds of genes have been reported as candidates for infertility, and collective data from additional cohorts is needed to evaluate the gene-disease relationship of these infertility candidate genes.",[18,19,20],"Primary Ovarian Insufficiency","Azoospermia","Oligospermia",[22,23,24,25,26,27,28,18,29],"NOA","POI","Premature Ovarian Insufficiency","oligospermia","azoospermia","diminished ovarian reserve","nonobstructive azoospermia","Infertility","OBSERVATIONAL",[],{"count":33,"type":34},500,"ESTIMATED",[],[37],{"measure":38,"description":39,"timeFrame":40},"Genetic associations with infertility (primary ovarian insufficiency, oligospermia, non obstructive azoospermia)","Across 5 years we will sequence patients with POI and NOA to determine genetic associations with infertility","5 years",[],"ALL","18 Years","100 Years",false,{"inclusion":47,"exclusion":48,"raw_text":49},[],[],"* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Adult male or female, of reproductive age\n4. Clinical diagnosis of NOA, oligospermia, or POI.\n5. In good general health with no medical history suspected as the cause of infertility.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Current use of medications that may cause infertility (chemotherapy, etc.)\n2. Pregnant or lactating\n3. Medical history indicating known common cause of infertility such as karyotype anomalies, Y-chromosome microdeletions, known monogenic causes, or other medical history affecting gamete production (i.e. injuries, surgical operations, infections, radiation, or chemotherapy).",[51,52],"ADULT","OLDER_ADULT",[54,63],{"facility":55,"status":8,"city":56,"state":57,"zip":58,"country":59,"geoPoint":60},"National Institutes of Health Clinical Center (Remote and In-Person)","Bethesda","Maryland","20892","United States",{"lat":61,"lon":62},38.98067,-77.10026,{"facility":64,"status":8,"city":65,"state":57,"zip":66,"country":59,"geoPoint":67},"Shady Grove Fertility","Rockville","20850",{"lat":68,"lon":69},39.084,-77.15276,[71],{"name":72,"role":73,"phone":74,"email":75},"Todd S Macfarlan, M.D.","CONTACT","(301) 594-8496","MacfarlanLab@mail.nih.gov",[77],{"name":72,"affiliation":12,"role":78},"PRINCIPAL_INVESTIGATOR",[],[81],{"label":82,"url":83},"NIH Clinical Center Detailed Web Page","https:\u002F\u002Fclinicalstudies.info.nih.gov\u002Fcgi\u002Fdetail.cgi?A_002332-CH.html",{"nct_id":4,"conditions":85,"biomarkers":87},[19,29,20,86],"Primary Ovarian Failure",[],{"nct_id":4,"found":89,"summary":90,"prompt_version":100},true,{"design":91,"status":92,"heading":93,"summary":94,"follow_up":95,"word_count":96,"commitments":97,"compensation":98,"drugs_mentioned":99},"This is an observational study planning to enroll 500 participants. It is not a treatment study but rather aims to identify genetic associations with infertility.","completed","Understanding Genetic Causes of Infertility","This observational study aims to understand the genetic causes of infertility, specifically in individuals with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI). Researchers believe certain genes, like PRDM9 and those in the piRNA pathway, may play a role. You could participate if you are an adult with a clinical diagnosis of NOA, oligospermia, or POI. The study's goal is to identify genes that may cause infertility, with results expected in five years. The study is currently recruiting 500 participants, but its overall status is unclear.","The primary endpoint, genetic associations with infertility, will be measured at 5 years.",86,"You would provide a saliva sample by using a cotton swab from a kit sent to your home and mailing it back. Some participants undergoing surgery may also be asked to consent to research use of leftover testicular biopsies.","Not stated in the trial record.",[],"v2"]