Recruiting

Genetic Causes

Sponsor:

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

Code:

NCT07357701

Conditions

Primary Ovarian Insufficiency

Azoospermia

Oligospermia

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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.

Conditions

Primary Ovarian Insufficiency

Azoospermia

Oligospermia

Study ID

NCT07357701

Start date

Mar 11, 2026

Status verified date

Mar 11, 2026

Completion date

Jan 1, 2031

Anticipated

Primary completion date

Jan 1, 2031

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

  • 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).

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Non obstructive azoospermia

Men aged 18 and older who have no semen in the ejaculate with no evidence of pathologic transport of sperm

Oligospermia

Men aged 18 or older who have a concentration less than 5 million/mL in ejaculate with no other known cause of oligospermia.

Primary ovarian insufficiency

Women who have been diagnosed with primary ovarian insufficiency

Primary outcome measure

  • Genetic associations with infertility (primary ovarian insufficiency, oligospermia, non obstructive azoospermia) [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Todd S Macfarlan, M.D.

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

Locations

National Institutes of Health Clinical Center (Remote and In-Person)

Recruiting

Bethesda, Maryland, United States, 20892

Shady Grove Fertility

Recruiting

Rockville, Maryland, United States, 20850

More Information

Sponsor

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

Last update posted

Mar 16, 2026

Last verified

Mar 11, 2026

Keywords

  • NOA
  • POI
  • Premature Ovarian Insufficiency
  • oligospermia
  • azoospermia
  • diminished ovarian reserve
  • nonobstructive azoospermia
  • Primary Ovarian Insufficiency
  • Infertility

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-03-16.