Thrombosis and Neurocognition in Klinefelter Syndrome

NCT02526628 | Completed DMC

• 1 other identifier: 2015_KS_TESTOSTERONE
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Klinefelter Syndrome; Thrombosis

Keywords

Testosterone; Neurocognition

Outcome Measures

Primary Outcomes (3)

• Differences in thrombin generation

  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.

  Time 0 and after 18 months followup

• Differences in fibrin clot properties

  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.

  Time 0 and after 18 months followup

• Difference in neurocognition

  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.

  Time 0 and after 18 months followup

Secondary Outcomes (2)

• Differences in blood coagulation and fibrinolysis parameters between groups

  Time 0 and after 18 months followup

• Differences in fMRI between groups

  Once at followup

Study Arms (4)

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

Controls 1

Matched healthy male controls for testosterone naive KS

Controls 2

Matched healthy male controls for testosterone treated KS

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Men with Klinefelter syndrome identified through clinics for fertility, endocrinology and genetics. Healthy controls from the general population living in Central Denmark Region.

You may qualify if:

• Klinefelter syndrome with 47 XXY karyotype
• Healthy male

You may not qualify if:

• 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)

Sponsors & Collaborators

• University of Aarhus: lead
• Aarhus University Hospital: collaborator
• Esbjerg Hospital - University Hospital of Southern Denmark: collaborator
• University of Southern Denmark: collaborator
• Sygehus Lillebaelt: collaborator

Study Sites (1)

Department for Endocrinology and Internal Medicine

Aarhus, 8000, Denmark

Location

Related Publications (1)

• Viuff M, Skakkebaek A, Johannsen EB, Chang S, Pedersen SB, Lauritsen KM, Pedersen MGB, Trolle C, Just J, Gravholt CH. X chromosome dosage and the genetic impact across human tissues. Genome Med. 2023 Mar 28;15(1):21. doi: 10.1186/s13073-023-01169-4.

  PMID: 36978128 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Bloodsamples

MeSH Terms

Conditions

Klinefelter Syndrome; Thrombosis

Condition Hierarchy (Ancestors)

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

Study Officials

• Claus H Gravholt, MD, Prof.

  Department of Endocrinology and Internal Medine and Department of Molecular Medicine

  STUDY CHAIR

• Simon Chang, MD

  Unit for Thrombosis Research

  PRINCIPAL INVESTIGATOR

• Anne Skakkebæk, MD, PhD

  Department of Clinical Genetics

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 10, 2015
• First Posted: August 18, 2015
• Study Start: September 1, 2015
• Primary Completion: August 21, 2019
• Study Completion: August 21, 2019
• Last Updated: August 22, 2019

Record last verified: 2018-01

Locations

DK (1)