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Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Summary
Background: Infertility 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. Objective: To identify genes that may cause infertility. Eligibility: Adult men and women with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI) of unknown cause. Design: Participants 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. Male 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. Data may be collected from participants medical records.
Official title: 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)
Key Details
Gender
All
Age Range
18 Years - 100 Years
Study Type
OBSERVATIONAL
Enrollment
500
Start Date
2026-03-11
Completion Date
2031-01-01
Last Updated
2026-03-16
Healthy Volunteers
No
Locations (2)
National Institutes of Health Clinical Center (Remote and In-Person)
Bethesda, Maryland, United States
Shady Grove Fertility
Rockville, Maryland, United States