hereditary multiple exostsoses (HME), glucose tolerance, dyslipidemia, ECG, adrenal function diabetes mellitus type 2
Conditions
Interventions
1. Orale glucose tolerance test (OGTT) for glucose disposal
2. Synacthen test for adrenal gland function.
Sponsors
ZONMW
Eligibility
Inclusion criteria
Inclusion criteria: 1. Males/females aged between 18 and 70 years; 2. Clinical diagnosis of Hereditary Multipele Exostoses (HME) with/without proven EXT1/EXT2 mutation (patient) OR unaffected family member (control); 3. Able to provide written informed consent.
Exclusion criteria
Exclusion criteria: 1. History of psychiatric disease (psychosis); 2. Malignancy with limited lifespan; 3. Pregnancy or female participants at childbearing age not using adequate anticonception (due to synacthen infusion).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Changes in glucose metabolism (oral glucose tolerance tests) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Changes in cardiovascular risk (lipidprofile and ECG changes) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects; 2. Changes in adrenal gland function (synacthen test) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects. | — |
Contacts
Public ContactM. Nieuwdorp
AFDELING INWENDIGE GENEESKUNDE AMC MEIBERGDREEF 9, KAMER F4.159.2
Outcome results
None listed