An observational study in Sex Chromosome Abnormality, Klinefelter Syndrome and Turner Syndrome, sponsored by University of Aarhus. Recruiting at 1 site in Denmark. Open to participants aged 18 Years to 90 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-11-29.
Sponsored by University of Aarhus · Observational
Among 12 studies in Klinefelter Syndrome with a site in Denmark — 6 open to participants now, 6 under way, none of them phase 3. Klinefelter Syndrome · Denmark.
Among the 12 studies in Klinefelter Syndrome with a site in Denmark, this one is the 2nd largest by planned enrollment of the 10 observational ones that give a count, is the only one that started in 2022, is one of 10 observational ones, and was the 8th registered.
47 studies on the registry are indexed under Klinefelter Syndrome; 17 are open to participants now.
Browse Klinefelter Syndrome studies →6 of the 12 studies in Klinefelter Syndrome with a site in Denmark are open now. Recruiting first, the newest first:
Lise Aksglæde · Sites in Denmark
Ages 10–14 · Men only
Odense University Hospital · Sites in Denmark
Ages 18–100 · Men only
Rigshospitalet, Denmark · Sites in Denmark
Men only
University of Aarhus · Sites in Denmark
Ages 0–50
University of Aarhus · Sites in Denmark
Ages 11 wk–22 wk
A study can be open while its sites in Denmark have not opened yet or have stopped. Only those recruiting at a site in Denmark →
Of the 11 Klinefelter Syndrome studies recruiting now, 2 (18%) set no upper age limit and 5 (45%) stop at 75 or younger; 7 take children under 18; 2 take healthy volunteers.
This study: 18 Years to 90 Years · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
12 studies; the count open now beside each. This study's row is marked.
First in 2002; this study’s year is marked. 1 started in 2022.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 320 is close to the median of 300 across 27 observational studies indexed under Klinefelter Syndrome.
Median enrollment 23 across the 2 interventional studies, 143 across the 10 observational. Of the 6 that completed or were terminated, 0 (0%) have results posted.
This tab as a report to print or save as PDF → With an account.
None of the 12 has an industry lead sponsor. The 4 most frequent:
University of Aarhus is the lead sponsor of 1,300 studies on the registry; 189 are open to participants now.
University of Aarhus has 8 studies filed under Klinefelter Syndrome — fewer than ten, so there is no comparison to draw.
None of the studies under way reaches primary completion within a year.
Among the 12 studies in Klinefelter Syndrome with a site in Denmark, from their registry updates:
Nothing recorded among them since 2026-09-25.
This tab as a report to print or save as PDF → With an account.
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities.
Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.
Background: The most prevalent SCAs are Klinefelter syndrome (KS; 47, XXY), 47,XXX, 47,XYY and Turner syndrome (TS; 45,X) with a prevalence of 85-250, 84, 98 and 50 per 100,000 liveborn boys/girls, respectively. The majority of SCAs can suffer from a range of diseases including congenital malformations, metabolic diseases, hypergonadotropic hypogonadism and infertility, autoimmune disease and psychiatric diseases. However, the genetic mechanisms causing these phenotypes are largely unexplained. The phenotypes have been suggested to arise from alterations in DNA methylation and RNA-expression. The methylome and transcriptome in peripheral blood samples from persons with KS, 47,XXX and TS have been found to be altered in comparison with controls. These genes are now starting to be found ex. SHOX, located in the pseudo autosomal region of the X and Y chromosome, escapes X-inactivation and is therefore equivalent to the number of sex chromosomes. Altered expression of SHOX in SCAs has been associated with the altered height seen in these patients.
Hypotheses:
Materials: Blood, fat, muscle, skin, buccal swaps, urine, will be collected from 60 klinefelter, 60 Turner syndrome patient, 20: 47, XXX and 20: 47, XYY and 80 male and female matched controls.
Methods:
Analysis of DNA-methylation using Whole Genome Bisulfite Sequencing (WGBS). Genomic DNA will be bisulfite-converted and sequenced on an Illumina Novaseq System. Sequence data pre-processors of software pipeline MethylStar. Analyzed using R.
Gene expression analysis (RNA) RNA will be cleaned and sequenced with a sequence depth of 30 million reads. Processing of sequence data using FastQC (quality control), HISAT2 (mapping) and featureCounts (gene-expression). Differences in gene-expression will be analyzed in R.
The extracted biopsies will be dissociated to singular cells RNA from these singular cells will be individually sequenced. For miRNA analysis we will isolate small non-coding RNAs and analyze these by next generation sequencing. Chromatin re-modelling can be analyzed through "footprints" left by histones on DNA-strand. Mapping of footprints along the whole X-chromosome is done using a single assay with chromatin-immunoprecipitation (CHIP) in combination med deep sequencing (chIPseq).
Genotype-Phenotype association analysis with weighted correlation network analysis (WGCNA) we will uncover the patterns in which genes behave and divide them into modules where genes react dependent of each other. These modules will afterwards be associated with the clinical data, enabling identification of the "hub" genes with the strongest associations to the phenotype.
These gene-modules, and the gene expression data itself, can furthermore be included in "deep-phenotyping" using artificial intelligence Perspectives A characterization of the methylome and transcriptome from different target tissue from patients with SCAs would not just be of significance to these patients but could lead to a larger understanding of similar diseases in patients without SCAs. Using SCAs as disease models and identify changes in DNA methylation and RNA-expression related to co-morbidity such as the metabolic syndrome, congenital heart disease or psychiatric diseases could increase the understanding of these diseases in general and potentially improve treatment in other patients groups with similar diseases.
In addition, the data collection will expand our biobank and will enable future research projects about SCAs.
Study population are danish participants.
Exclusion Criteria:
-
Patients with 47, XXY n=60
Other: No intervention other than obtaining biopsies
Patients with 45, X n=60
Other: No intervention other than obtaining biopsies
Patients with 47, XXX n=20
Other: No intervention other than obtaining biopsies
Patients with 47, XYY n=20
Other: No intervention other than obtaining biopsies
Male controls n=80
Other: No intervention other than obtaining biopsies
Female controls n=80
Other: No intervention other than obtaining biopsies
Biopsies will be obtained.
Epigenetic changes relate to phenotype
Epigenetic changes relate to phenotype
Time frame: 2½ years
Immunologic changes in turner syndrom
Patients with Turner syndrome may have altered immunological properties
Time frame: 2 years
Plan to share: No
Started Jun 2022 (actual). Primary completion is estimated for May 2025, 34 months after the start.
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