Skip to main content
OpenTrials
Completed

NCT Number: NCT02526628

Thrombosis and Neurocognition in Klinefelter Syndrome

The haemostatic balance and neurocognitive capability of men with Klinefelter syndrome is compared to healthy controls by using specific biochemical assays for coagulation and fibrinolysis and a selection of neuropsychological tests and brain fMRI. Furthermore, the effect of gonadal status and any effects of long- or short-term testosterone treatment on the above mentioned parameters are investigated.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Klinefelter Syndrome Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Embolism and Thrombosis Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Hypogonadism Male Urogenital Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Thrombosis Urogenital Abnormalities Urogenital Diseases Vascular Diseases

Age range

18 year–70 year

Sex eligibility

Male

Study type

Observational

Primary location

Department for Endocrinology and Internal Medicine

Aarhus, 8000, Denmark

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Klinefelter syndrome with 47 XXY karyotype
  • Healthy male

Exclusion criteria

  • Known thrombophilia
  • Previous thrombotic event
  • Chronic or acute illness affecting the haemostatic balance (e.g. diabetes, cancer).
  • Previous or current disease affecting the brain
  • Weight above 120 kg
  • Current abuse of stimulants affecting the brain
  • Unability to complete MR-scan (e.g. claustrophobia, internal metal objects)

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

Secondary outcomes

  1. 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.

  2. 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.

Sponsors and collaborators

Lead sponsor

University of Aarhus

Other

Collaborators

  • Aarhus University Hospital
  • Esbjerg Hospital - University Hospital of Southern Denmark
  • Sygehus Lillebaelt
  • University of Southern Denmark

Registry information

Official study title

The Haemostatic Balance and Neurocognitive Phenotype in Klinefelter Syndrome - The Effect of Testosterone Treatment

Important dates

Study start
2015
Primary completion
2019
Study completion
2019
First posted
Aug 18, 2015
Registry last updated
Aug 22, 2019

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.