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

• Conditions: hereditary multiple exostsoses (HME), glucose tolerance, dyslipidemia, ECG, adrenal function diabetes mellitus type 2

• Registration Number: NL-OMON27537
• Lead Sponsor: ZONMW

Brief Summary

/A

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Last Update Posted: 28 February 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 600

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);

Exclusion Criteria

1. History of psychiatric disease (psychosis);

2. Malignancy with limited lifespan;

Study & Design

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

Primary Outcome Measures

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

Secondary Outcome Measures

Name	Time	Method
1. Changes in cardiovascular risk (lipidprofile and ECG changes) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects;<br /><br>2. Changes in adrenal gland function (synacthen test) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects.