Data Collection Study of Pediatric and Adolescent Gynecology Conditions

NCT04717349 | Recruiting

• 2 other identifiers: 20012620-CH-0126
• Study Type: observational
• Target: 11,000
• Locations: 1 country
• Sites: 1

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

Reproductive Endocrine Conditions in Puberty; Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions; Disorders of Sex Development (DSD); Pediatric and Adolescent Cancers of the Genital Tract

Keywords

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

Outcome Measures

Primary Outcomes (2)

• Recruit a diverse population of pediatric and adult subjects

  Recruit a diverse population of pediatric and adult subjects with known or suspected PAG disorders in order to collect evaluate the underlying natural history data and specimen of typical and atypical presentations of PAG disorders.

  Ongoing

• Create a large database of PAG conditions

  Create a large database of PAG conditions in presentation and variety.

  Ongoing

Study Arms (2)

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.

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Pediatric and adolescent patients with gynecologic conditions and their family members that would provide clinical information related to the diagnosis of a proband.

You may qualify if:

• Provision of signed and dated informed consent form.
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Participants with known or suspected pediatric and adolescent gynecologic conditions of any age are eligible for this protocol.
• Provision of signed and dated informed consent form.
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• 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.

You may not qualify if:

• An individual who meets any of the following criteria will be excluded from participation in this study:
• 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.
• Pregnant family members

Sponsors & Collaborators

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

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Disorders of Sex Development; Congenital Abnormalities

Condition Hierarchy (Ancestors)

Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Gonadal Disorders; Endocrine System Diseases

Study Officials

• Veronica Gomez-Lobo, M.D.

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Veronica Gomez-Lobo, M.D.

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 20, 2021
• First Posted: January 22, 2021
• Study Start: April 21, 2021
• Primary Completion (Estimated): December 2, 2039
• Study Completion (Estimated): December 2, 2039
• Last Updated: April 9, 2026

Record last verified: 2026-04-07

Locations

US (1)