Recruiting

Observational Study

Sponsor:

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

Code:

NCT04717349

Conditions

Disorders of Sex Development (DSD)

Pediatric and Adolescent Cancers of the Genital Tract

Reproductive Endocrine Conditions in Puberty

Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief summary:

Background:

Gynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract. Researchers want to gather data over time from a large group of young people with these conditions.

Objective:

To create a database about child and teenage gynecologic conditions.

Eligibility:

Participants of any age with known or suspected pediatric and adolescent gynecologic conditions, and their adult family members

Design:

Participants will be screened with a review of their medical records.

Participants may have a medical history and physical exam.

Participants will have blood drawn using a needle. The blood will be used for genetic tests.

Participants will have saliva collected. They will spit into a small plastic container. Or their spit will be absorbed from their mouth using a small sponge. The saliva will be used for genetic tests.

Participants may have samples collected from their vagina. A small cotton swab will be used to gather the samples. This procedure is optional.

If participants have a surgery related to their condition, a small tissue sample will be taken. It will be stored for future research.

Participants may complete optional surveys. These surveys ask about their physical and emotional health. They can choose not to answer any of the questions.

Researchers will collect medical data from participants standard tests. Such tests may include blood and urine tests, X-rays, nuclear medicine scans, and other tests. Data will also be collected from standard treatments they may receive.

Conditions

Disorders of Sex Development (DSD)

Pediatric and Adolescent Cancers of the Genital Tract

Reproductive Endocrine Conditions in Puberty

Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions

Study ID

NCT04717349

Start date

Apr 21, 2021

Status verified date

Aug 4, 2026

Completion date

Dec 2, 2039

Anticipated

Primary completion date

Dec 2, 2039

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA FOR PAG PATIENTS:

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. Participants with known or suspected pediatric and adolescent gynecologic conditions of any age are eligible for this protocol.

INCLUSION CRITERIA FOR PAG PATIENTS OF FAMILY MEMBERS:

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. In order to be eligible to participate in this study, an individual must meet all of the following criteria: Relatives ages 18 years and older may be enrolled if clinically indicated for the diagnosis of a proband.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect/limit the evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.
2. Pregnant family members

Study Design

Enrollment

11000 participants

Anticipated

Interventions and Outcome Measures

Arms

Family Members of PAG patients

Clinical evaluation of family members that would provide clinical information related to the diagnosis of a proband in future research.

PAG patient

Pediatric and adolescent patients with gynecologic conditions.

Primary outcome measure

  • Recruit a diverse population of pediatric and adult subjects [ Time Frame: Ongoing ]
  • Create a large database of PAG conditions [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Veronica Gomez-Lobo, M.D.

(301) 435-7567veronica.gomez-lobo@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

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

Last update posted

Aug 6, 2026

Last verified

Aug 4, 2026

Keywords

  • Congenital Anomalies
  • Disorders of sex development (DSD)
  • Childhood and adolescence cancers
  • Adolescent fertility
  • Natural History

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 2026-08-06.