Actively Recruiting

Age: 18Years - 100Years
All Genders
NCT07357701

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

Age: 18Years - 100Years
All Genders

Eligibility Criteria

Eligible

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
Not Eligible

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

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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

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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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