Thrombosis and Neurocognition in Klinefelter Syndrome
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|ClinicalTrials.gov Identifier: NCT02526628|
Recruitment Status : Completed
First Posted : August 18, 2015
Last Update Posted : August 22, 2019
|Condition or disease|
|Klinefelter Syndrome Thrombosis|
Klinefelter syndrome (KS) affects approximately 1 in every 600 males, but remains severely underdiagnosed. Men with KS are more prone to a wide range of diseases including thrombotic disorders. Also, neurocognitive function is impaired in KS. The background for the increased thrombosis proneness is not understood, and also it is not understood how testosterone treatment affects the thrombosis risk in KS. The effects of testosterone treatment on neurocognition in KS is also not completely understood. However, it is speculated that testosterone treatment at an early point could help improve the overall neurocognitive performance.
In this study 30 males with KS receiving testosterone treatment, 30 males with KS not receiving testosterone treatment and 60 matched healthy male controls are included. After initial examination including blood testing and neurocognitive testing, the subjects are followed for 18 months and examined a second time. After initial examination the group of previously untreated KS males will be put on standard testosterone treatment according to current guidelines.
Groups will be compared by measuring and array of markers for coagulation and fibrinolysis, including thrombin generation and fibrin structure analysis, to assess the haemostatic balance. Also, a wide array of neurocognitive tests and brain fMRI is applied to compare the neurocognitive function between the groups.
|Study Type :||Observational|
|Actual Enrollment :||90 participants|
|Official Title:||The Haemostatic Balance and Neurocognitive Phenotype in Klinefelter Syndrome - The Effect of Testosterone Treatment|
|Study Start Date :||September 2015|
|Actual Primary Completion Date :||August 21, 2019|
|Actual Study Completion Date :||August 21, 2019|
Testosterone naïve KS
Men with Klinefelter syndrome without testosterone treatment. After initial examination standard treatment with testosterone will be effectuated according to current guidelines.
Testosterone treated KS
Men with Klinefelter syndrome receiving testosterone treatment
Matched healthy male controls for testosterone naive KS
Matched healthy male controls for testosterone treated KS
- Differences in thrombin generation [ Time Frame: Time 0 and after 18 months followup ]Thrombin generation using the CAT assay is assessed as ETP (nM thrombin), peak height (nM thrombin) and lag time (minutes). All variables are assessed at inclusion and after a 18 month follow-up. Groups are compared statistically at each time point and any changes during follow-up is also analysed.
- Differences in fibrin clot properties [ Time Frame: Time 0 and after 18 months followup ]Fibrin clot properties is assessed by fibrin structure analysis in plasma samples. All variables are assessed at inclusion and after a 18 month follow-up. Groups are compared statistically at each time point and any changes during follow-up is also analysed.
- Difference in neurocognition [ Time Frame: Time 0 and after 18 months followup ]neurocognition is assessed using a wide array of psychological tests (e.g. Wais-III, Stroop test, Wisconsin Card Sorting Test and others) All variables are assessed at inclusion and after a 18 month follow-up. Groups are compared statistically at each time point and any changes during follow-up is also analysed.
- Differences in blood coagulation and fibrinolysis parameters between groups [ Time Frame: Time 0 and after 18 months followup ]Coagulation and fibrinolysis can not be adequately assessed by analysis of a single parameter. To evaluate the overall status of these systems an array of analyses are needed, and further more need to be interpreted by experts within the field. Thus, severeal markers of coagulation and fibrinolysis including INR, APTT, single coagulation factors, PAI-1 and others are to be assessed at inclusion and after a 18 month follow-up. Groups are compared statistically at each time point and any changes during follow-up is also analysed. Besides applying statistics, the compiled results will also be interpreted by experts within the field to provide an overall characterization of the haemostatic balance in the individual groups and by comparison to each other.
- Differences in fMRI between groups [ Time Frame: Once at followup ]fMRI will be performed to evaluate the response in the brain to various stimuli and tests, with the overall purpose of examining speech, memory and other cognition related features.
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02526628
|Department for Endocrinology and Internal Medicine|
|Aarhus, Denmark, 8000|
|Study Chair:||Claus H Gravholt, MD, Prof.||Department of Endocrinology and Internal Medine and Department of Molecular Medicine|
|Principal Investigator:||Simon Chang, MD||Unit for Thrombosis Research|
|Principal Investigator:||Anne Skakkebæk, MD, PhD||Department of Clinical Genetics|