Actively Recruiting
Studying Gene Variants Linked to Infertility in Adults with Non-Obstructive Azoospermia or Primary Ovarian Insufficiency
Led by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Updated on 2026-03-16
500
Participants Needed
2
Research Sites
N/A
Total Duration
AI-Summary
What this Trial Is About
Researchers are studying infertility caused by non-obstructive azoospermia NOA in males and primary ovarian insufficiency POI in females, conditions often linked to genetic factors. This observational study aims to identify genes that may cause infertility by examining genome variants, especially focusing on PRDM9 and noncoding piRNA clusters, which are thought to play a role in human infertility. Participants will provide saliva or blood samples for genomic DNA sequencing using kits sent to their homes. Some male participants undergoing surgical procedures as part of their treatment may consent to provide leftover testicular tissue for research. No additional procedures are performed solely for the study. During the study, participants medical records may be reviewed, and genetic data will be analyzed over five years to identify associations between gene variants and infertility conditions like NOA, oligospermia, or POI. The study requires participants to be adults with a clinical diagnosis of these conditions and in good general health without known causes of infertility.
CONDITIONS
Brief Title
Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)
Research Team
T
Todd S Macfarlan, M.D.
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