Understanding Genetic Causes of Infertility
This observational study aims to understand the genetic causes of infertility, specifically in individuals with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI). Researchers believe certain genes, like PRDM9 and those in the piRNA pathway, may play a role. You could participate if you are an adult with a clinical diagnosis of NOA, oligospermia, or POI. The study's goal is to identify genes that may cause infertility, with results expected in five years. The study is currently recruiting 500 participants, but its overall status is unclear.
- Study design
- This is an observational study planning to enroll 500 participants. It is not a treatment study but rather aims to identify genetic associations with infertility.
- What's involved
- You would provide a saliva sample by using a cotton swab from a kit sent to your home and mailing it back. Some participants undergoing surgery may also be asked to consent to research use of leftover testicular biopsies.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary endpoint, genetic associations with infertility, will be measured at 5 years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)
At a glance
Conditions
Where it's being run
2 sites across 1 statesStudy leadership
- Todd S Macfarlan, M.D. · PRINCIPAL_INVESTIGATOR · Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
What this trial measures
- Genetic associations with infertility (primary ovarian insufficiency, oligospermia, non obstructive azoospermia)5 years
Across 5 years we will sequence patients with POI and NOA to determine genetic associations with infertility