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Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype

NCT05425953 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 320

Last updated 2023-11-29

No results posted yet for this study

Summary

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.

Conditions

  • Sex Chromosome Abnormality
  • Klinefelter Syndrome
  • Turner Syndrome
  • Metabolic Disease
  • Cardiovascular Diseases
  • Immunologic Disease

Interventions

OTHER

No intervention other than obtaining biopsies

Biopsies will be obtained.

Sponsors & Collaborators

  • Aarhus University Hospital

    collaborator OTHER

  • University of Aarhus

    lead OTHER

Principal Investigators

  • Claus Gravholt, Prof · Aarhus University Hospital

Eligibility

Min Age
18 Years
Max Age
90 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-06-13
Primary Completion
2025-05-01
Completion
2025-05-01

Countries

  • Denmark

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05425953 on ClinicalTrials.gov