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

NCT07357701 | Recruiting

• 2 other identifiers: 10002332002332-CH
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 2

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

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

  Across 5 years we will sequence patients with POI and NOA to determine genetic associations with infertility

  5 years

Study Arms (3)

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

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients seeking infertility care diagnosed with primary ovarian insufficiency, non obstructive azoospermia, or oligospermia will be offered the opportunity to enroll in genetic sequencing to further evaluate genetic causes of infertility.

You may qualify if:

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

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• Current use of medications that may cause infertility (chemotherapy, etc.)
• Pregnant or lactating
• 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).

Sponsors & Collaborators

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

Study Sites (2)

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

Bethesda, Maryland, 20892, United States

RECRUITING

Shady Grove Fertility

Rockville, Maryland, 20850, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Primary Ovarian Insufficiency; Azoospermia; Oligospermia; Azoospermia, Nonobstructive; Infertility

Condition Hierarchy (Ancestors)

Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Gonadal Disorders; Endocrine System Diseases; Infertility, Male; Genital Diseases, Male; Male Urogenital Diseases

Study Officials

• Todd S Macfarlan, M.D.

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Todd S Macfarlan, M.D.

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 21, 2026
• First Posted: January 22, 2026
• Study Start: March 11, 2026
• Primary Completion (Estimated): January 1, 2031
• Study Completion (Estimated): January 1, 2031
• Last Updated: March 16, 2026

Record last verified: 2026-03-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)