Klinefelter SyndromeNCT00999310
Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
An observational study of Klinefelter Syndrome, run by University of Aarhus at 1 site in Denmark.
Trial summary
The purpose of this study is to investigate the following: 1. Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity. 2. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Klinefelter Syndrome
- How many people
- 146 participants
- Where
- 1 siteDenmark
- Study dates
- Nov 2009to Jun 2013
- 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 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Patients with Klinefelter syndrome are recruited from endocrine and fertility clinics. The control groups are recruited by advertising for healthy volunteers at the University of Aarhus and at the Blood Bank at the Aarhus University Hospital.
Who may be able to join
- age between 18 and 60 years
- verified KS karyotype (KS patients)
Who cannot join
- present or past neurological diseases
- present or past head trauma
- contraindication to perform MR scans(Claustrophobia,Magnetic or electric foreign bodies - including cardiac pacemakers, magnetic cerebrovascular clips and electric non-removable appliances dosing medicine)
- extreme adiposity (BMI > 35 kg/m2)
Trial locations and contacts
1 site in 1 country.
Denmark1 site
Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Nørrebrogade 44
Aarhus, 8000
About this study
The purpose of this study is to investigate the following:
- Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity.
- The influence of genetic factors and testosterone treatment on the neuropsychological phenotype, total and regional brain volumes and brain activity in men with Klinefelter syndrome.
Read the detailed description
Klinefelter syndrome (KS) is the most common sex-chromosome disorder in men with a prevalence of 1 in 660 men. Men with the syndrome have an additional X-chromosome. The syndrome is associated with cognitive and behavioral dysfunction and also with hypogonadism. Magnetic resonance imaging have pointed to different volumetric alterations in several brain structures. Several genetic factors involving the X-chromosome have been suggested to influence the neuropsychological phenotype in men with KS.
The aim of this study is to investigate the following: 1.Whether KS is associated with altered total and regional brain volumes and altered brain activity. 2.Whether genetic factors influence the neuropsychological phenotype, total and regional brain volumes, and brain activity in men with KS. 3.Whether testosterone treatment improves cognitive skills and change brain activity in men with KS.
Participants are divided in 5 groups: 1. 50 men with KS who receive testosterone treatment. 2. 50 men KS who do not receive testosterone treatment. 3. 100 age-matched control men.4. 50 age-matched control women are included as a control group for X-chromosome inactivation pattern. 5. Parents of KS subjects in group 1 and 2 are included to determine the parental origin of the supernumerary X-chromosome. Methods include a 3-hour battery of standardized neuropsychological tests to cover a broad range of cognitive domains and to assess major domains of personality. We use magnetic resonance imaging to measure total and regional brain volumes and functional magnetic resonance imaging to measure brain activity while subjects are performing a attention-demanding cognitive task. The genetic testing includes the parental origin of the supernumerary X-chromosome, the pattern of X-chromosome inactivation, androgen receptor (AR) CAGn repeat length, and gene expression profile of brain-expressed genes.
- Conditions
- Klinefelter Syndrome
- Keywords
- Klinefelter syndrome, Neuropsychology, Neuroradiology, Genetics
- Medical subject headings
- Klinefelter 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 |
|---|---|---|
| Klinefelter syndrome | Not described | |
| Control men | Not described | |
| Control women | Not described | |
| parents of Klinefelter groupe | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Oct 2009 (estimated)
- Study startNov 2009
- Primary completionApr 2012
- Study completionJun 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Klinefelter SyndromeStudies of the same condition, open and under way.
- More trials run by University of AarhusThe sponsor's other registered studies.
- 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
- Cross-sectional
- Enrolment
- 146 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Aarhus
- Sponsor type
- University, hospital or other
- Collaborators
- Aarhus University Hospital
- Responsible party
- Sponsor
- Investigators
- Claus H Gravholt, MD, DMSCI, Principal investigator, Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus, DenmarkAnne S Jensen, MD, Principal investigator, University of Aarhus
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00999310
- Sponsor's protocol ID
- M-20080238
- Status last verified
- Sep 2012
- First submitted
- 20 Oct 2009
- Last updated
- 2 Jun 2015
- Results posted
- No
- Data monitoring committee
- No
Publications
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.
PubMed 36978128Chang S, Skakkebaek A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Ostergaard JR, Gravholt CH. Anthropometry in Klinefelter syndrome--multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab. 2015 Mar;100(3):E508-17. doi: 10.1210/jc.2014-2834. Epub 2014 Dec 16.
PubMed 25514102Skakkebaek A, Bojesen A, Kristensen MK, Cohen A, Hougaard DM, Hertz JM, Fedder J, Laurberg P, Wallentin M, Ostergaard JR, Pedersen AD, Gravholt CH. Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics. Andrology. 2014 Jul;2(4):632-40. doi: 10.1111/j.2047-2927.2014.00229.x. Epub 2014 May 28.
PubMed 24865607
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
- ClinicalTrials.gov ID
- NCT00999310
- Acronym / sponsor ID
- M-20080238
- Conditions
- Klinefelter Syndrome
- Keywords
- Klinefelter syndrome, Neuropsychology, Neuroradiology, Genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 146 participants (actual)
- Lead sponsor
- University of AarhusUniversity, hospital or other
- Collaborators
- Aarhus University Hospital
- Study start
- Nov 2009
- Primary completion
- Apr 2012 (actual)
- Study completion
- Jun 2013 (actual)
- First posted
- 21 Oct 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.
The purpose of this study is to investigate the following:
- Whether Klinefelter Syndrome is associated with altered total and regional brain volumes and altered brain activity.
- The influence of genetic factors and testosterone treatment on the neuropsychological phenotype, total and regional brain volumes and brain activity in men with Klinefelter syndrome.
Detailed description
Klinefelter syndrome (KS) is the most common sex-chromosome disorder in men with a prevalence of 1 in 660 men. Men with the syndrome have an additional X-chromosome. The syndrome is associated with cognitive and behavioral dysfunction and also with hypogonadism. Magnetic resonance imaging have pointed to different volumetric alterations in several brain structures. Several genetic factors involving the X-chromosome have been suggested to influence the neuropsychological phenotype in men with KS.
The aim of this study is to investigate the following: 1.Whether KS is associated with altered total and regional brain volumes and altered brain activity. 2.Whether genetic factors influence the neuropsychological phenotype, total and regional brain volumes, and brain activity in men with KS. 3.Whether testosterone treatment improves cognitive skills and change brain activity in men with KS.
Participants are divided in 5 groups: 1. 50 men with KS who receive testosterone treatment. 2. 50 men KS who do not receive testosterone treatment. 3. 100 age-matched control men.4. 50 age-matched control women are included as a control group for X-chromosome inactivation pattern. 5. Parents of KS subjects in group 1 and 2 are included to determine the parental origin of the supernumerary X-chromosome. Methods include a 3-hour battery of standardized neuropsychological tests to cover a broad range of cognitive domains and to assess major domains of personality. We use magnetic resonance imaging to measure total and regional brain volumes and functional magnetic resonance imaging to measure brain activity while subjects are performing a attention-demanding cognitive task. The genetic testing includes the parental origin of the supernumerary X-chromosome, the pattern of X-chromosome inactivation, androgen receptor (AR) CAGn repeat length, and gene expression profile of brain-expressed genes.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Klinefelter syndrome | – | – |
| Control men | – | – |
| Control women | – | – |
| parents of Klinefelter groupe | – | – |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Patients with Klinefelter syndrome are recruited from endocrine and fertility clinics. The control groups are recruited by advertising for healthy volunteers at the University of Aarhus and at the Blood Bank at the Aarhus University Hospital.
Key inclusion criteria (2 listed)
- age between 18 and 60 years
- verified KS karyotype (KS patients)
Key exclusion criteria (4 listed)
- present or past neurological diseases
- present or past head trauma
- contraindication to perform MR scans(Claustrophobia,Magnetic or electric foreign bodies - including cardiac pacemakers, magnetic cerebrovascular clips and electric non-removable appliances dosing medicine)
- extreme adiposity (BMI > 35 kg/m2)
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
Not reported in the source record.
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 Jun 2015.
- Derived from this study: PubMed 36978128Viuff 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.
- Derived from this study: PubMed 25514102Chang S, Skakkebaek A, Trolle C, Bojesen A, Hertz JM, Cohen A, Hougaard DM, Wallentin M, Pedersen AD, Ostergaard JR, Gravholt CH. Anthropometry in Klinefelter syndrome--multifactorial influences due to CAG length, testosterone treatment and possibly intrauterine hypogonadism. J Clin Endocrinol Metab. 2015 Mar;100(3):E508-17. doi: 10.1210/jc.2014-2834. Epub 2014 Dec 16.
- Derived from this study: PubMed 24865607Skakkebaek A, Bojesen A, Kristensen MK, Cohen A, Hougaard DM, Hertz JM, Fedder J, Laurberg P, Wallentin M, Ostergaard JR, Pedersen AD, Gravholt CH. Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics. Andrology. 2014 Jul;2(4):632-40. doi: 10.1111/j.2047-2927.2014.00229.x. Epub 2014 May 28.
Related trials for Klinefelter Syndrome
Not yet recruitingObservational study
Hematological Profile in Children With Numerical Chromosomal Disorders
Down Syndrome, Turner Syndrome
RecruitingPhase 1
A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies
Sex Chromosome Disorders
Enrolling by invitation
Parent and Infant Inter(X)Action Intervention (PIXI)
Fragile X Syndrome, Angelman Syndrome
RecruitingPhase 3
Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
Klinefelter Syndrome
Enrolling by invitationObservational study
Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
Sex Chromosome Disorders
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.
Claus H Gravholt, MD, DMSCI principal investigator
Medical Department M, Endocrinology and Diabetes, and Medical Research Laboratories, Clinical Institute, Aarhus University Hospital, Aarhus, Denmark
Anne S Jensen, MD principal investigator
University of Aarhus
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 Klinefelter Syndrome, run by University of Aarhus at 1 site in Denmark.
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 4 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 Jun 2015. 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 Denmark. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00999310, which also lists 3 linked publications.
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 Jun 2015.