Actively Recruiting
Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)
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
251 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official 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 provided
- Willingness to comply with all study procedures and be available for the 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 to cause infertility
You will not qualify if you...
- Currently using medications that may cause infertility, such as chemotherapy
- Pregnant or breastfeeding
- Medical history showing known common causes of infertility like karyotype anomalies, Y-chromosome microdeletions, known monogenic causes, or other factors affecting gamete production such as injuries, surgeries, infections, radiation, or chemotherapy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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.
CONTACT
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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