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
- Are there results?
- Not yet: the study is under way
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
Study at a glance
From the registry record, last updated by the sponsor on 5 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Data Collection Study of Pediatric and Adolescent Gynecology Conditions
- ClinicalTrials.gov ID
- NCT04717349
- Acronym / sponsor ID
- 200126
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 11,000 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 21 Apr 2021 (actual)
- Primary completion
- 2 Dec 2039 (estimated)
- Study completion
- 2 Dec 2039 (estimated)
- First posted
- 22 Jan 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 1 day to 100 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- 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.
Key inclusion criteria (6 listed)
- 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.
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Recruit a diverse population of pediatric and adult subjects
Time frame: Ongoing
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.
Create a large database of PAG conditions
Time frame: Ongoing
Create a large database of PAG conditions in presentation and variety.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Veronica Gomez-Lobo, M.D. principal investigator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
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.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Veronica Gomez-Lobo, M.D. ((301) 435-7567, veronica.gomez-lobo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Recruit a diverse population of pediatric and adult subjects (time frame: Ongoing). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Oct 2026.