RecruitingNot Applicable

Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)

United States500 participantsStarted 2026-03-11

Plain-language 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.

Who can participate

Age range

18 Years – 100 Years

Sex

ALL

See this in plain English?

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Inclusion criteria

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

Exclusion criteria

. Current use of medications that may cause infertility (chemotherapy, etc.)

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Genetic associations with infertility (primary ovarian insufficiency, oligospermia, non obstructive azoospermia)

Timeframe: 5 years

Trial details

NCT IDNCT07357701

SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2031-01-01

Contact for this trial

Todd S Macfarlan, M.D.

(301) 594-8496 MacfarlanLab@mail.nih.gov

View on ClinicalTrials.gov More Primary Ovarian Insufficiency trials