Turner SyndromeNCT00877942
Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
An observational study of Turner Syndrome, run by University of North Carolina, Chapel Hill at 1 site in United States.
Trial summary
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males and females, but the sexes differ in expression. Read more about this study
- Who is it for?
- Ages 2 weeks to 2 yearsHealthy volunteers can take part
- Conditions the study is for
- Turner Syndrome
- How many people
- 295 participants
- Where
- 1 siteUnited States
- Study dates
- Oct 2006to May 2014
- Phase
- Observational
- Are there results?
- None posted in the registry
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 2 weeks to 2 years
- All sexes
- Healthy volunteers accepted
- Child
Study population: Control subjects are recruited from the Prenatal Diagnostic Clinic at UNC-Chapel Hill, which performs over 12,000 prenatal ultrasound scans a year. Please note that all pregnant women in North Carolina are referred for an ultrasound at gestational age 18 weeks as part of routine prenatal care. Subjects with Turner syndrome are identified through the UNC Turner Syndrome clinic, through advertisements with relevant local and national support groups such as the Turner Syndrome Society, and through genetic counselors and other relevant health professionals throughout the United States.
Who may be able to join
- For controls a child must have a normal ultrasound at the 18 week prenatal visit and the absence of major medical or psychiatric conditions in the mother.
- Children with Turner Syndrome must have diagnosis confirmed by genetic testing.
Who cannot join
- For controls - major medical or psychiatric conditions in the mother and major medical problems or congenital conditions in the child.
- For Turner children - The study is open to all TS karyotypes except those with Y chromosome material.
- For both groups children with conditions that preclude participating in an MRI scan ( i.e. metal in the body)
Trial locations and contacts
1 site in 1 country.
United States1 site
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, 27599
About this study
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males and females, but the sexes differ in expression. It has been hypothesized that the prevalence and expression of these disorders is related to sex differences in brain development. X-chromosome effects and early exposure to gonadal hormones are strong candidates for a causal role. The aims of the research are (1) to characterize sex differences in brain development from birth to age 2; (2) to test whether brain development is altered in infants with Turner syndrome, a well-defined genetic disorder resulting from the partial or complete loss of one of the sex chromosomes. To address aim 1, high resolution MRI, including diffusion tensor imaging (DTI), will be used to characterize sex differences in brain development from birth to age 2 in a longitudinal cohort of 250 children. To address aim 2, high resolution MRI, including DTI, will be used to compare brain development in 70 infants with Turner syndrome (X monosomy) to matched controls from aim 1. The investigators hypothesize that sex differences in gray and white matter development and in white matter maturation as assessed by DTI will be present during the first 2 years of life and that children with TS will exhibit abnormal gray and white matter development in the neonatal period.
- Conditions
- Turner Syndrome
- Medical subject headings
- Turner Syndrome
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 |
|---|---|---|
| 1 | Typically developing children drawn from the general population | |
| 2 | Children with Turner Syndrome |
What is being measured
The primary outcome is the main question the study is designed to answer.
Brain volumes on MRI
Measured: 2-4 weeks post birth
Secondary outcomes (1)
Brain volumes and DTI parameters
Measured: 2-4 weeks post birth, 1 yr, 2 yr
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Apr 2009 (estimated)
- Study startOct 2006
- Primary completionMay 2014
- Study completionMay 2014
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Turner SyndromeStudies 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 295 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of North Carolina, Chapel Hill
- Sponsor type
- University, hospital or other
- Collaborators
- National Institute of Mental Health (NIMH)
- Responsible party
- Principal investigator, Rebecca Knickmeyer Santelli, University of North Carolina, Chapel Hill
- Investigators
- Rebecca C Knickmeyer, Ph.D., Principal investigator, University of North Carolina, Chapel Hill
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00877942
- Sponsor's protocol ID
- K01MH083045-01
- Other IDs
- 1K01MH083045-01
- Status last verified
- May 2014
- First submitted
- 6 Apr 2009
- Last updated
- 2 May 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 May 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Sex Differences in Early Brain Development; Brain Development in Turner Syndrome
- ClinicalTrials.gov ID
- NCT00877942
- Acronym / sponsor ID
- K01MH083045-01
- Conditions
- Turner Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 295 participants (actual)
- Lead sponsor
- University of North Carolina, Chapel HillUniversity, hospital or other
- Collaborators
- National Institute of Mental Health (NIMH)
- Study start
- Oct 2006
- Primary completion
- May 2014 (actual)
- Study completion
- May 2014 (actual)
- First posted
- 8 Apr 2009 (estimated)
- 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.
Relative risk for many psychiatric disorders differs dramatically in males and females. Early-onset disorders, such as autism, occur more often in males; other conditions, such as schizophrenia, occur at similar rates in males and females, but the sexes differ in expression. It has been hypothesized that the prevalence and expression of these disorders is related to sex differences in brain development. X-chromosome effects and early exposure to gonadal hormones are strong candidates for a causal role. The aims of the research are (1) to characterize sex differences in brain development from birth to age 2; (2) to test whether brain development is altered in infants with Turner syndrome, a well-defined genetic disorder resulting from the partial or complete loss of one of the sex chromosomes. To address aim 1, high resolution MRI, including diffusion tensor imaging (DTI), will be used to characterize sex differences in brain development from birth to age 2 in a longitudinal cohort of 250 children. To address aim 2, high resolution MRI, including DTI, will be used to compare brain development in 70 infants with Turner syndrome (X monosomy) to matched controls from aim 1. The investigators hypothesize that sex differences in gray and white matter development and in white matter maturation as assessed by DTI will be present during the first 2 years of life and that children with TS will exhibit abnormal gray and white matter development in the neonatal period.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Typically developing children drawn from the general population |
| 2 | – | –Children with Turner Syndrome |
Who may qualify
- Ages
- 2 weeks to 2 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- Control subjects are recruited from the Prenatal Diagnostic Clinic at UNC-Chapel Hill, which performs over 12,000 prenatal ultrasound scans a year. Please note that all pregnant women in North Carolina are referred for an ultrasound at gestational age 18 weeks as part of routine prenatal care. Subjects with Turner syndrome are identified through the UNC Turner Syndrome clinic, through advertisements with relevant local and national support groups such as the Turner Syndrome Society, and through genetic counselors and other relevant health professionals throughout the United States.
Key inclusion criteria (2 listed)
- For controls a child must have a normal ultrasound at the 18 week prenatal visit and the absence of major medical or psychiatric conditions in the mother.
- Children with Turner Syndrome must have diagnosis confirmed by genetic testing.
Key exclusion criteria (3 listed)
- For controls - major medical or psychiatric conditions in the mother and major medical problems or congenital conditions in the child.
- For Turner children - The study is open to all TS karyotypes except those with Y chromosome material.
- For both groups children with conditions that preclude participating in an MRI scan ( i.e. metal in the body)
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
Brain volumes on MRI
Time frame: 2-4 weeks post birth
1 secondary outcome
Brain volumes and DTI parameters
Time frame: 2-4 weeks post birth, 1 yr, 2 yr
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 May 2014.
Related trials for Turner Syndrome
RecruitingObservational study
Natural History of Noncirrhotic Portal Hypertension
Cystic Fibrosis, Immunologic Deficiency Syndrome
RecruitingObservational study
Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy
Turner Syndrome, Post-menarcheal Adolescents
Active, not recruitingPhase 2
Efficacy and Safety of Phentermine/Topiramate in Youth With Hypothalamic Obesity
Hypothalamic Obesity, Hypothalamic Tumor
Active, not recruitingPhase 1/2
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
Hypothalamic Obesity, Prader-Willi Syndrome
RecruitingObservational study
Turner Syndrome: Genetic Considerations
Genetic
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. This study is not recruiting at the moment.
Rebecca C Knickmeyer, Ph.D. principal investigator
University of North Carolina, Chapel Hill
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 Turner Syndrome, run by University of North Carolina, Chapel Hill 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 2 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: finished, as of the sponsor's last update on 2 May 2014. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Brain volumes on MRI (time frame: 2-4 weeks post birth). 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 May 2014.