Marfan syndrome free patients Q87.4
Conditions
Interventions
Group 1: Patients provide a saliva sample in which the concentration of the hormone "asprosin" is then analyzed.
Group 2: In addition, variables such as height, age, weight, gender are recorded from t
Sponsors
Klinik für Kinder-/ Jugendmedizin, Universitätsklinikum Köln
Eligibility
Sex/Gender
All
Age
3 Years to No maximum
Inclusion criteria
Inclusion criteria: Case-1: Inclusion criteria - Presence of Marfan syndrome corresponding to the revised 2010 Gent nosology. - Age between 3 and 18 years - Willingness to participate in the study and to sign the informed consent form - Presence of a signed informed consent form from a parent or guardian. Control-1 Inclusion criteria - Age between 3 and 18 years - Willingness to participate in the study and sign the informed consent form - Presence of a signed informed consent form from a legal guardian - with regard to matching to case-1, there should be as high a match as possible in the influencing variables age, gender and BMI Case-2 Inclusion criteria - presence of Marfan syndrome according to the revised Gent nosology of 2010 - Age over 18 years - Willingness to participate in the study and to sign the informed consent form. Control-2 Inclusion criteria - Age over 18 years - willingness to participate in the study and to sign the informed consent form - with regard to matching to case-2, there should be as high a match as possible in the influencing variables age, gender and BMI
Exclusion criteria
Exclusion criteria: Case-1 Exclusion criteria: - Absence of Marfan syndrome corresponding to the revised 2010 Gent nosology. - Age under 3 years or over 18 years - Persons with cognitive impairment and/or insufficient knowledge of the German language - Failure to provide a signed consent form from a parent or guardian Control-1 Exclusion criteria: - Presence of Marfan syndrome corresponding to the 2010 revised Gent nosology. - Presence of any other structural heart disease - Presence of a potential Marfan syndrome corresponding to the 2010 gene nosology (human genetic evidence with insufficient clinical symptoms for a Marfan syndrome) - Age under 3 years or over 18 years - Persons with cognitive impairment and/or insufficient knowledge of the German language - non-existence of a signed declaration of consent from a parent or guardian - strong deviation of matching factors (BMI, age, gender) to case-1 case-2 Exclusion criteria: - Absence of Marfan syndrome corresponding to the revised 2010 Gent nosology. - Age under 18 years - Individuals with cognitive impairment and/or insufficient knowledge of the German language and inadequate reading ability Control-2 Exclusion criteria: - Presence of Marfan syndrome corresponding to the revised 2010 Gent nosology. - Presence of any other structural heart disease - Presence of a potential Marfan syndrome corresponding to the 2010 gene nosology (human genetic evidence with insufficient clinical symptoms for a Marfan syndrome) - Age under 18 years - persons with cognitive impairment and/or insufficient knowledge of the German language - strong deviation of matching influencing variables (BMI, age, sex) to case-2
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Measurement of asprosin concentration in saliva of case and control patients including variables such as weight, height, age, sex, BMI, KOF. | — |
Secondary
| Measure | Time frame |
|---|---|
| Radiological examination of the liver with regard to steatosis in patients with low asprosin concentrations. | — |
Countries
Germany
Contacts
Public ContactGerhard Sengle
Klinik für Kinder-/ Jugendmedizin, Uniklinik Köln
Outcome results
None listed