GeneticNCT07502586
Turner Syndrome: Genetic Considerations
An observational study of Genetic, run by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) at 1 site in United States.
Trial summary
Background: Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Read more about this study
- Who is it for?
- Ages 1 day to 110 years
- Conditions the study is for
- Genetic
- How many people
- 500 participants
- Where
- 1 siteUnited States
- Study dates
- 24 Mar 2026to 31 Aug 2028
- 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 110 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Turner syndrome patient and family member
Who may be able to join
- Turner syndrome diagnosis based on karyotype
- Any age
- Biological parent of Turner syndrome patient
- Relatives of Turner syndrome patient
- The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database
Who cannot join
- 1. Diagnosis other than Turner syndrome
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
NIH Clinical Center Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Background:
Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.
Read more
Objective:
To create a genetic database of people with TS.
Eligibility:
People of any age with TS currently enrolled, or interested in enrolling in protocol 20-CH-0126. Biological parents and other relatives are also needed.
Design:
Participants who agree to join this study will be asked to enroll in a second study; that study is called "NIAID Centralized Sequencing Protocol" (Protocol No. 17I0122).
Participants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour.
The information collected in those tests will be collected for use in the database created as part of this study.
Read the detailed description
Study Description:
This is a supplemental study which proposes to refer Turner syndrome patients within other NICHD protocols to NIAID protocol 17I0122 for WGS to create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants associated with co-occurring conditions.
Objectives:
- Primary Objective: Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
- Secondary Objective: Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
- Tertiary Objectives: Generate and analyze evidence regarding genetic underpinnings and possible variants related to the co-occurring associated conditions in TS, such as von Willebrand Disease, hypertension, anomalies of heart and kidney, and autoimmune conditions.
- Conditions
- Genetic
- Keywords
- Gynecology disorder
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 |
|---|---|---|
| Patient | Turner Syndrome | |
| Family member | Family member of patient with Turner Syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
To create a database which will allow for evaluation of patient with turner syndrome and their family member
Measured: One year
Secondary outcomes (1)
Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
To create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants
Measured: One year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Mar 2026
- Study start24 Mar 2026
- Primary completion30 Aug 2027 (estimated)
- Study completion31 Aug 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for GeneticStudies 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
- Other
- Time perspective
- Retrospective
- Enrolment
- 500 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
- NCT07502586
- Sponsor's protocol ID
- 10002558
- Other IDs
- 002558-CH
- Status last verified
- 30 Sep 2026
- First submitted
- 30 Mar 2026
- Last updated
- 2 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Turner Syndrome: Genetic Considerations
- ClinicalTrials.gov ID
- NCT07502586
- Acronym / sponsor ID
- 10002558
- Conditions
- Genetic
- Keywords
- Gynecology disorder
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)US National Institutes of Health
- Study start
- 24 Mar 2026 (actual)
- Primary completion
- 30 Aug 2027 (estimated)
- Study completion
- 31 Aug 2028 (estimated)
- First posted
- 31 Mar 2026 (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:
Turner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.
Objective:
To create a genetic database of people with TS.
Eligibility:
People of any age with TS currently enrolled, or interested in enrolling in protocol 20-CH-0126. Biological parents and other relatives are also needed.
Design:
Participants who agree to join this study will be asked to enroll in a second study; that study is called "NIAID Centralized Sequencing Protocol" (Protocol No. 17I0122).
Participants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour.
The information collected in those tests will be collected for use in the database created as part of this study.
Detailed description
Study Description:
This is a supplemental study which proposes to refer Turner syndrome patients within other NICHD protocols to NIAID protocol 17I0122 for WGS to create a database which will allow for evaluation of candidate genes associated with meiosis as well as variants associated with co-occurring conditions.
Objectives:
- Primary Objective: Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
- Secondary Objective: Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
- Tertiary Objectives: Generate and analyze evidence regarding genetic underpinnings and possible variants related to the co-occurring associated conditions in TS, such as von Willebrand Disease, hypertension, anomalies of heart and kidney, and autoimmune conditions.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patient | – | –Turner Syndrome |
| Family member | – | –Family member of patient with Turner Syndrome |
Who may qualify
- Ages
- 1 day to 110 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Turner syndrome patient and family member
Key inclusion criteria (5 listed)
Key exclusion criteria (1 listed)
- 1. Diagnosis other than Turner syndrome
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
Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition.
Time frame: One year
To create a database which will allow for evaluation of patient with turner syndrome and their family member
1 secondary outcome
Evaluate for a list of candidate gene variants in genes that have previously been implicated in impacting human meiosis, infertility, and spermatogenesis.
Time frame: One year
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 2 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided
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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 Genetic, 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 5 inclusion and 1 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 2 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?
Create a large database of whole genome sequencing (WGS) from individuals with Turner syndrome, a rare condition. (time frame: One year). 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 2 Oct 2026.