search  
 


Home

Who are we?

Why
register?


Signup for
registration


Online registration

Log in to register
your trial


Search a trial

NRT en CCMO

Contact

NEDERLANDS





MetaRegister
van CCT (UK)


ISRCTN-Register
van CCT (UK)


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


- candidate number10510
- NTR NumberNTR3130
- ISRCTNISRCTN wordt niet meer aangevraagd.
- Date ISRCTN created
- date ISRCTN requested
- Date Registered NTR7-nov-2011
- Secondary IDs2011_339 MEC AMC
- Public TitleMARE-study: Metabolic derAngements in heReditary multiple Exostoses (HME) subjects with either heterozygous EXT1 or EXT2 mutations; a clinical cohort study.
- Scientific TitleMARE-study: Metabolic derAngements in heReditary multiple Exostoses (HME) subjects with either heterozygous EXT1 or EXT2 mutations; a clinical cohort study.
- ACRONYMMARE study
- hypothesisA recent Genome Wide Association Study (GWAS) identified novel risk loci for type 2 diabetes including EXT-2. This gene codes for exostosin, which is an enzyme involved in the elongation of heparan sulfate, a glycosaminoglycan present in all cells throughout the human body. Patients with EXT-1 and EXT-2 mutations are phenotypically characterized by the hereditary multiple exostoses/ multiple osteochondromas (HME/MO) syndrome, an autosomal dominant syndrome causing multiple epiphysial bone tumors due to a reduction in heparan sulfate synthesis. Thus, these subjects are solely seen in the orthopaedic outpatient clinic. However, preliminary data show that mice with identical EXT mutations are also characterized by insulin secretion problems and anatomic smaller pancreas, dyslipidemia and adrenal insufficiency. This is most likely induced due to impaired heparan-sulfate orchestrated organ development and cell to cell signalling.
- Healt Condition(s) or Problem(s) studiedDiabetes Mellitus Type 2 (DM type II), Echocardiography, Dyslipemia, Adrenal function, Hereditary multiple exostsoses (HME), Glucose tolerance
- Inclusion criteria1. 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 criteria1. 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).
- mec approval receivedyes
- multicenter trialno
- randomisedno
- groupParallel
- Type2 or more arms, non-randomized
- Studytypeobservational
- planned startdate 1-feb-2012
- planned closingdate1-feb-2014
- Target number of participants600
- Interventions1. Orale glucose tolerance test (OGTT) for glucose disposal;
2. Synacthen test for adrenal gland function.
- Primary outcomeChanges in glucose metabolism (oral glucose tolerance tests) in subjects with HME with either EXT1 or EXT2 mutation compared to unaffected control subjects.
- Secondary outcome1. 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.
- TimepointsOne measurement period.
- Trial web siteN/A
- statusplanned
- CONTACT FOR PUBLIC QUERIESMD. PhD. M. Nieuwdorp
- CONTACT for SCIENTIFIC QUERIESMD. PhD. M. Nieuwdorp
- Sponsor/Initiator ZonMw: The Netherlands Organization for Health Research and Development
- Funding
(Source(s) of Monetary or Material Support)
ZON-MW, The Netherlands Organization for Health Research and Development
- PublicationsN/A
- Brief summaryTo relate clinical phenotype of subjects with Hereditary Multipele Exostoses to EXT genotype in relation to:
1. Glycemic control (HbA1c, fasting glucose and insulin, OGTT and HOMA-r);
2. Cardiovascular risk profile including baseline ECG, dyslipdemia (fasting lipid profiles) and microalbuminuria;
3. Adrenal gland function (synacthen test).

We will study subjects with hereditary multiple exostoses (HME) who are frequently seen at the outpatient clinic of orthopaedic surgery at the OLVG. Patients as well as unaffected family members will be contacted by mail one month before their regular visit to treating physician dr Ham/dr van der Zwan for their consent to participate in these clinic study and to arrive at the OLVG fasted. All studies/measurements will be performed at the OLVG.
- Main changes (audit trail)
- RECORD7-nov-2011 - 2-mrt-2012


  • Indien u gegevens wilt toevoegen of veranderen, kunt u een mail sturen naar nederlands@trialregister.nl