Metabolic derAngements in heReditary multiple Exostoses (HME) subjects with either heterozygous EXT1 or EXT2 mutations; a clinical cohort study (MARE study)

Completed

• Conditions: adrenal insufficienty; diabetes mellitus; 10027424; 10018424

• Registration Number: NL-OMON37615
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 400

Inclusion Criteria

*Age between 18 and 70 years
*Clinical diagnosis of Hereditary Multipele Exostoses (HME) with/without proven EXT1/EXT2 mutation (patient) OR unaffected family member (control)
*Written informed consent

Exclusion Criteria

* History of psychiatric disease (psychosis)
* Pregnancy or female participants at childbearing age not using adequate anticonception (due to synacthen infusion)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Changes in glucose metabolism (oral glucose tolerance tests) in subjects with<br /><br>HME with either EXT1 or EXT2 mutation compared to unaffected control subjects. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Changes in cardiovascular risk (lipidprofile and ECG changes) in subjects with<br /><br>HME with either EXT1 or EXT2 mutation compared to unaffected control subjects.<br /><br>Changes in adrenal gland function (synacthen test) in subjects with HME with<br /><br>either EXT1 or EXT2 mutation compared to unaffected control subjects. </p><br>