Klinefelter Syndrome, HypogonadismIZKF-CRA03-09NCT01703676
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
An observational study of Klinefelter Syndrome, Hypogonadism, run by University Hospital Muenster.
Trial summary
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. Read more about this study
- Who is it for?
- Ages 18 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Klinefelter Syndrome, Hypogonadism
- How many people
- 300 participants
- Where
- No sites listed yet
- Study dates
- Mar 2010to Aug 2012
- 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 70 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients, their parents, male controls, female controls
Who may be able to join
- Klinefelter Syndrome
Who cannot join
- Mosaic status
About this study
Official title: Klinefelter Syndrome: Do the Parental Origin and Epigenetic Profile of the Supernumerary X Chromosome Determine Phenotype, Morbidity, Inflammatory Status and Cardiovascular Risk?
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly active and disturbs a normal male development. Testosterone deficiency in form of primary hypogonadism is a common feature in these men. Such a condition promotes clinically relevant metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin resis-tance), cardiovascular disease as well as infertility. However, the variety of pathologies is pro-nounced between patients and low testosterone concentrations cannot fully explain the wide scope of pathologies in these men. Some patients become clinically obvious during puberty and adoles-cence, some in their thirties or later and all exhibit a huge variation in phenotype. Switching on and off of specific genes on the X-chromosome is differential, depending on the origin either from the maternal or paternal side. Hence, an influence on the clinical picture is hypothesised. Thus, key targets are clarification of the parental origin of the supernumerary X chromosome and elucidation of methylation and expression profile of pivotal X-chromosomal genes. These will be related to clinically relevant metabolic and inflammatory patterns as well as fertility to identify individual risks as well as treatment strategies for Klinefelter patients.
- Conditions
- Klinefelter Syndrome, Hypogonadism
- Keywords
- Hypogonadism, Klinefelter Syndrome, Cardiovascular Risk, Epigenetics, Methylation of Genes, Cardiovascular risk factors, Gonadal status, Gene expression, Methylation
- Medical subject headings
- Klinefelter Syndrome, Hypogonadism
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 |
|---|---|---|
| Patients | Klinefelter Patients | |
| Parents | Parents of Klinefelter Patients | |
| Controls M | Healthy Male Control with normal karyotype | |
| Controls F | Healthy female controls |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Oct 2012 (estimated)
- Study startMar 2010
- Primary completionMay 2012
- Study completionAug 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Klinefelter Syndrome, HypogonadismStudies 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
- 300 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital Muenster
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Zitzmann, University Hospital Muenster
- Investigators
- Michael Zitzmann, MD, PhD, Principal investigator, University Hospital Muenster
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01703676
- Sponsor's protocol ID
- EpigenMetabDisordKlinefelter
- Acronym
- IZKF-CRA03-09
- Status last verified
- Oct 2012
- First submitted
- 5 Oct 2012
- Last updated
- 15 Oct 2012
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tuttelmann F. Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):E518-23. doi: 10.1210/jc.2014-2780. Epub 2014 Dec 22.
PubMed 25532039
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2012. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Klinefelter Syndrome: Do the Parental Origin and Epigenetic Profile of the Supernumerary X Chromosome Determine Phenotype, Morbidity, Inflammatory Status and Cardiovascular Risk?
- ClinicalTrials.gov ID
- NCT01703676
- Acronym / sponsor ID
- IZKF-CRA03-09 / EpigenMetabDisordKlinefelter
- Conditions
- Klinefelter Syndrome, Hypogonadism
- Keywords
- Hypogonadism, Klinefelter Syndrome, Cardiovascular Risk, Epigenetics, Methylation of Genes, Cardiovascular risk factors, Gonadal status, Gene expression, Methylation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 300 participants (actual)
- Lead sponsor
- University Hospital MuensterUniversity, hospital or other
- Study start
- Mar 2010
- Primary completion
- May 2012 (actual)
- Study completion
- Aug 2012 (actual)
- First posted
- 10 Oct 2012 (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.
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients. Epigenetics and transcriptome-research will be directly linked to the metabolic and inflammatory pattern of actual patients to improve care for them. The Klinefelter Syndrome is one of the most common genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly active and disturbs a normal male development. Testosterone deficiency in form of primary hypogonadism is a common feature in these men. Such a condition promotes clinically relevant metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin resis-tance), cardiovascular disease as well as infertility. However, the variety of pathologies is pro-nounced between patients and low testosterone concentrations cannot fully explain the wide scope of pathologies in these men. Some patients become clinically obvious during puberty and adoles-cence, some in their thirties or later and all exhibit a huge variation in phenotype. Switching on and off of specific genes on the X-chromosome is differential, depending on the origin either from the maternal or paternal side. Hence, an influence on the clinical picture is hypothesised. Thus, key targets are clarification of the parental origin of the supernumerary X chromosome and elucidation of methylation and expression profile of pivotal X-chromosomal genes. These will be related to clinically relevant metabolic and inflammatory patterns as well as fertility to identify individual risks as well as treatment strategies for Klinefelter patients.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Patients | – | –Klinefelter Patients |
| Parents | – | –Parents of Klinefelter Patients |
| Controls M | – | –Healthy Male Control with normal karyotype |
| Controls F | – | –Healthy female controls |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients, their parents, male controls, female controls
Key inclusion criteria (1 listed)
- Klinefelter Syndrome
Key exclusion criteria (1 listed)
- Mosaic status
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 15 Oct 2012.
- Derived from this study: PubMed 25532039Zitzmann M, Bongers R, Werler S, Bogdanova N, Wistuba J, Kliesch S, Gromoll J, Tuttelmann F. Gene expression patterns in relation to the clinical phenotype in Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):E518-23. doi: 10.1210/jc.2014-2780. Epub 2014 Dec 22.
Related trials for Klinefelter Syndrome, Hypogonadism
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.
Michael Zitzmann, MD, PhD principal investigator
University Hospital Muenster
Questions about this trial
What is this clinical trial studying?
An observational study of Klinefelter Syndrome, Hypogonadism, run by University Hospital Muenster.
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 1 inclusion and 1 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 15 Oct 2012. Status can change between updates, so confirm with the study contact before making plans.
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 NCT01703676, which also lists 1 linked publication.
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 15 Oct 2012.