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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)

Who can join

Ages 18 to 100 · All sexes

* INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. Provision of signed and dated informed consent form
2. Stated willingness to comply with all study procedures and availability for the duration of the study
3. Adult male or female, of reproductive age
4. Clinical diagnosis of NOA, oligospermia, or POI.
5. In good general health with no medical history suspected as the cause of infertility.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Current use of medications that may cause infertility (chemotherapy, etc.)
2. Pregnant or lactating
3. 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).

About the study

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.

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Participants: 500 · Started: Mar 11, 2026

Contact the study team

• Todd S Macfarlan, M.D. · Phone: (301) 594-8496

Official record on ClinicalTrials.gov — NCT07357701

Locations in the U.S.

Conditions

• Primary Ovarian Insufficiency
• Infertility

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.