Data Collection Study of Pediatric and Adolescent Gynecology Conditions

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.

Study Overview

• Status: Recruiting
• 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

Detailed Description

Study Description:

The overall purpose of PAG evaluations under this protocol is to gather information over time from a large group of patients with PAG conditions to help improve our understanding of these conditions. Our aim is to create a large database of PAG conditions in presentation and variety.

Objectives:

Primary Objective:

• Recruit a diverse population of pediatric and adult subjects with known or suspected PAG disorders in order to collect data and specimen of typical and atypical presentations of PAG disorders.
• Create a large database of PAG conditions in presentation and variety.

• Study Type: Observational
• Enrollment (Estimated): 11000

Contacts and Locations

• Study Contact: Name: Veronica Gomez-Lobo, M.D.; Phone Number: (301) 435-7567; Email: veronica.gomez-lobo@nih.gov

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • Recruiting
      • National Institutes of Health Clinical Center
      • Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR); Phone Number: TTY8664111010 800-411-1222; Email: prpl@cc.nih.gov

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• 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.

Description

• 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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Investigators: Principal Investigator: Veronica Gomez-Lobo, M.D., Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Publications and helpful links

Helpful Links

• NIH Clinical Center Detailed Web Page

Study record dates

Study Major Dates

• Study Start (Actual): April 21, 2021
• Primary Completion (Estimated): December 2, 2039
• Study Completion (Estimated): December 2, 2039

Study Registration Dates

• First Submitted: January 20, 2021
• First Submitted That Met QC Criteria: January 21, 2021
• First Posted (Actual): January 22, 2021

Study Record Updates

• Last Update Posted (Estimated): January 24, 2024
• Last Update Submitted That Met QC Criteria: January 23, 2024
• Last Verified: January 19, 2024

More Information

Terms related to this study

• Keywords: Natural History; Congenital Anomalies; Disorders of sex development (DSD); Childhood and adolescence cancers; Adolescent fertility
• Additional Relevant MeSH Terms: Pathologic Processes; Endocrine System Diseases; Gonadal Disorders; Urogenital Abnormalities; Congenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Disease; Disorders of Sex Development
• Other Study ID Numbers: 200126; 20-CH-0126

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No