Actively Recruiting
Identifying Genome Variants and Evaluating PRDM9 and piRNA Clusters as Candidates for 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
On this page
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)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Signed and dated informed consent form
- Willingness to comply with all study procedures and availability for study duration
- Adult male or female of reproductive age
- Clinical diagnosis of non-obstructive azoospermia, oligospermia, or primary ovarian insufficiency
- In good general health with no medical history suspected as the cause of infertility
You will not qualify if you...
- Current use of medications that may cause infertility, such as chemotherapy
- Pregnant or lactating
- Medical history indicating known common cause of infertility such as karyotype anomalies, Y-chromosome microdeletions, known monogenic causes, or other conditions affecting gamete production like injuries, surgeries, infections, radiation, or chemotherapy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or remote) to obtain consent and collect initial samples
Duration - Up to 5 years
Participants provide saliva or blood samples as a source of genomic DNA for sequencing. A small subset who undergo surgery as part of their clinical care may provide leftover testicular biopsy samples for research.
1 to 2 visits depending on clinical procedures and sample availability
Duration - Up to 5 years
Participants are followed over time to monitor genetic associations with infertility.
Periodic visits as needed for assessments and sample collection
Trial Site Locations
Total: 2 locations
1
National Institutes of Health Clinical Center (Remote and In-Person)
Bethesda, Maryland, United States, 20892
Actively Recruiting
2
Shady Grove Fertility
Rockville, Maryland, United States, 20850
Actively Recruiting
Research Team
T
Todd S Macfarlan, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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