Investigation of Pain Perception and Function of the Autonomic Nervous System in Children, Adolescents and Young Adults with Klinefelter Syndrome
Organizational Data
- DRKS-ID:
- DRKS00031826
- Recruitment Status:
- Recruiting complete, study complete
- Date of registration in DRKS:
- 2023-05-08
- Last update in DRKS:
- 2024-04-05
- Registration type:
- Retrospective
Acronym/abbreviation of the study
No Entry
URL of the study
https://centrum-seltene-erkrankungen-ruhr.de/kli-veg-studie/
Brief summary in lay language
A previous study provides evidence that boys and adolescents with Klinefelter syndrome (KS) have limited physical fitness/performance. We assume that this aspect is caused, among other things, by a dysregulation of the autonomic nervous system and want to investigate this further using several functional tests in this study. During a consultation and study-related examinations, a physical examination will be carried out and the hormone status will be determined. Pain perception will be assessed using a proven method to measure it, called Quantitative Sensory Testing (QST). In addition, the functions of the autonomic nervous system are measured by means of heart rate variability analysis. The participants also complete a performance diagnostic examination on a jumping plate as well as through a 6-minute walking test. If medically indicated, a lung function test is also carried out. The above-mentioned study-related measures require an additional time commitment of about 3 hours. The study is conducted at the University Clinic for Paediatrics and Adolescent Medicine in Bochum and is headed by Prof. Dr. med. Corinna Grasemann. Participation in the study has no influence on the medical treatment of the participants. Additional visits to the clinic are not required.
Brief summary in scientific language
Klinefelter syndrome (KS) is one of the most common chromosomal aberrations of the male sex and is characterised by the presence of an extra X chromosome in a male phenotype. With a prevalence of 0.1-0.2% in the general population, the syndrome is probably the most common chromosomal aneuploidy in humans. A heterogeneous presentation with multiple organ system involvement leads to a high proportion of underdiagnosed affected individuals. In a previous study, an impaired cardiorespiratory performance in the sense of an increased prevalence of chronotropic insufficiency was observed in adolescents with KS. Etiologically, a dysregulation of the autonomic nervous system is suspected. This hypothesis is supported by literature describing abnormalities of the nervous system in people with KS. The results of the study are needed to understand the cause of the previously detected reduced cardiorespiratory performance in patients with KS and to develop targeted therapy options.
Health condition or problem studied
- ICD10:
- Q98.2 - Klinefelter syndrome, male with 46,XX karyotype
- Healthy volunteers:
- No
Interventions, Observational Groups
- Arm 1:
- Patients with Klinefelter's syndrome are examined with regard to their pain perception and function of the autonomic nervous system.
Endpoints
- Primary outcome:
- Height, weight, heart rate variability parameters, limit of pain perception, walking distance, maximum jump force
- Secondary outcome:
- Performance of the proficiency tests
Study Design
- Purpose:
- Other
- Retrospective/prospective:
- Prospective
- Study type:
- Non-interventional
- Longitudinal/cross-sectional:
- Cross-sectional study
- Study type non-interventional:
- Epidemiological study
Recruitment
- Recruitment Status:
- Recruiting complete, study complete
- Reason if recruiting stopped or withdrawn:
- No Entry
Recruitment Locations
- Recruitment countries:
-
- Germany
- Number of study centers:
- Monocenter study
- Recruitment location(s):
-
- University medical center Universitätsklinikum für Kinder- und Jugendmedizin Bochum, St. Josef-Hospital, Ruhr-Universität Bochum Bochum
Recruitment period and number of participants
- Planned study start date:
- No Entry
- Actual study start date:
- 2022-09-05
- Planned study completion date:
- 2024-02-29
- Actual Study Completion Date:
- 2024-04-01
- Target Sample Size:
- 40
- Final Sample Size:
- 19
Inclusion Criteria
- Sex:
- Male
- Minimum Age:
- 6 Years
- Maximum Age:
- 30 Years
- Additional Inclusion Criteria:
- - Confirmed diagnosis of Klinefelter syndrome - Signed consent (in the case of underage participants, consent from the legal guardians)
Exclusion Criteria
- Withdrawal of patient consent/lack of consent - Lack of language skills
Addresses
Primary Sponsor
- Address:
- Klinik für Kinder- und Jugendmedizin, St. Josef-Hospital BochumProf. Dr. med. Corinna GrasemannAlexandrinenstr. 544791 BochumGermany
- Telephone:
- +49 (0)234/509-2601
- Fax:
- +49 (0)234/509-2616
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- https://www.klinikum-bochum.de/kinder-und-jugendmedizin/fachbereich.html
- Investigator Sponsored/Initiated Trial (IST/IIT):
- Yes
Contact for Scientific Queries
- Address:
- Klinik für Kinder- und Jugendmedizin, St. Josef-Hospital BochumProf. Dr. med. Corinna GrasemannAlexandrinenstr. 544791 BochumGermany
- Telephone:
- +49 (0)234/509-2601
- Fax:
- +49 (0)234/509-2616
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- https://www.klinikum-bochum.de/kinder-und-jugendmedizin/fachbereich.html
Contact for Public Queries
- Address:
- Klinik für Kinder- und Jugendmedizin, St. Josef-Hospital BochumProf. Dr. med. Corinna GrasemannAlexandrinenstr. 544791 BochumGermany
- Telephone:
- +49 (0)234/509-2601
- Fax:
- +49 (0)234/509-2616
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- https://www.klinikum-bochum.de/kinder-und-jugendmedizin/fachbereich.html
Principal Investigator
- Address:
- Klinik für Kinder- und Jugendmedizin, St. Josef-Hospital BochumProf. Dr. med. Corinna GrasemannAlexandrinenstr. 544791 BochumGermany
- Telephone:
- +49 (0)234/509-2601
- Fax:
- +49 (0)234/509-2616
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- https://www.klinikum-bochum.de/kinder-und-jugendmedizin/fachbereich.html
Sources of Monetary or Material Support
Institutional budget, no external funding (budget of sponsor/PI)
- Address:
- Klinik für Kinder- und Jugendmedizin, St. Josef Hospital Bochum, Ruhr-Universität Bochum44791 BochumGermany
- Telephone:
- No Entry
- Fax:
- No Entry
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- No Entry
Ethics Committee
Address Ethics Committee
- Address:
- Ethik-Kommission der Medizinischen Fakultät der Ruhr-Universität BochumGesundheitscampus 3344801 BochumGermany
- Telephone:
- +49-234-79816555
- Fax:
- No Entry
- Contact per E-Mail:
- Contact per E-Mail
- URL:
- http://www.ruhr-uni-bochum.de/ethik/
Vote of leading Ethics Committee
- Vote of leading Ethics Committee
- Date of ethics committee application:
- 2022-07-21
- Ethics committee number:
- 22-7614-BR
- Vote of the Ethics Committee:
- Approved
- Date of the vote:
- 2022-08-09
Further identification numbers
- Other primary registry ID:
- No Entry
- EudraCT Number:
- No Entry
IPD - Individual Participant Data
- Do you plan to make participant-related data (IPD) available to other researchers in an anonymized form?:
- No
- IPD Sharing Plan:
- No Entry
Study protocol and other study documents
- Study protocols:
- No Entry
- Study abstract:
- No Entry
- Other study documents:
- No Entry
- Background literature:
- No Entry
- Related DRKS studies:
- DRKS00024870 - Vorgängerstudie
Publication of study results
- Planned publication:
- No Entry
- Publikationen/Studienergebnisse:
- No Entry
- Date of first publication of study results:
- No Entry
- DRKS entry published for the first time with results:
- No Entry
Basic reporting
- Basic Reporting / Results tables:
- No Entry
- Brief summary of results:
- No Entry