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

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

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON37615

Enrollment

400

Registered

2012-02-23

Start date

2012-07-05

Completion date

Unknown

Last updated

2024-04-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

adrenal insufficienty diabetes mellitus

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

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

Exclusion criteria: * History of psychiatric disease (psychosis) * 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
Changes in cardiovascular risk (lipidprofile and ECG changes) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects. Changes in adrenal gland function (synacthen test) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects.	—

Countries

Netherlands

Outcome results