Disorders of Sex Development (DSD)NCT04717349
Data Collection Study of Pediatric and Adolescent Gynecology Conditions
An observational study of Disorders of Sex Development (DSD) and Pediatric and Adolescent Cancers of the Genital Tract, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 100 yearsHealthy volunteers can take part
- Conditions the study is for
- Disorders of Sex Development (DSD), Pediatric and Adolescent Cancers of the Genital Tract, Reproductive Endocrine Conditions in Puberty
- How many people
- 11,000 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Apr 2021to 2 Dec 2039
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 100 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY8664111010, prpl@cc.nih.gov
About this study
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.
Read more
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.
Read the detailed description
Study Description:
The overall purpose of Pediatric and Adolescent Gynecology (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.
This study does not involve administration of investigational drugs, devices, or behavioral interventions. Participants receive standard clinical care independent of research participation.
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.
- 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
- Keywords
- Congenital Anomalies, Disorders of sex development (DSD), Childhood and adolescence cancers, Adolescent fertility, Natural History
- Medical subject headings
- Disorders of Sex Development, Congenital Abnormalities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
Create a large database of PAG conditions
Create a large database of PAG conditions in presentation and variety.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Jan 2021
- Study start21 Apr 2021
- Primary completion2 Dec 2039 (estimated)
- Study completion2 Dec 2039 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Disorders of Sex Development (DSD)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 11,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Veronica Gomez-Lobo, M.D., Principal investigator, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04717349
- Sponsor's protocol ID
- 200126
- Other IDs
- 20-CH-0126
- Status last verified
- 1 Oct 2026
- First submitted
- 20 Jan 2021
- Last updated
- 5 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No