Turner Syndrome: Genetic Considerations
ConditionGenetic
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-110
SponsorEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
Turner syndrome diagnosis based on karyotype
Any age
Biological parent of Turner syndrome patient
Relatives of Turner syndrome patient
Disqualifiers
None
Trial population
Turner syndrome patient and family member
Trial design
Design model
Other
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
500 Participants
are grouped into 2 trial groupsGroup A: Patient
Group B: Family member
Trial outcomes
Primary outcomes
1
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
Time frame
One yearSecondary 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
Time frame
One yearSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov