36 results
The aim of this pilot study is to assess the effect of low intensity mastication training in patients with a mitochondrial disease on masticatory performance, efficacy, endurance, bite force and the feasibility of this training .
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
In this study, we aim to test the feasibilty, reliability and validity of the MOX-accelerometer in measuring daily physical activity in children with mitochondrial disease.
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
The purpose of the current study is to evaluate the difference in TICE in FHBL-patients as compared to unaffected controls, according to the previously developed stable isotope method with minor modifications (METC 10/092). This way we can prove the…
The primary aim of the present protocol is to determine the role of chenodeoxycholate for postprandial GLP-1 responses (and the resulting metabolic consequences) in humans.
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
We would like to study whether aberrant heparansulfate synthesis in HME subjects leads to impaired glucose metabolism, dyslipidemia and subsequent increased cardiovascular risk as well as impaired adrenal gland function when compared to unaffected…
We would like to evaluate the beneficial effects of fibrate treatment on muscle mitochondrial and cardiac function in patients with NLSDM.
This study will evaluate the effect of approximately 10 years of pravastatin treatment on IMT in young adults with FH. Furthermore, safety parameters and psychological aspects with respect to early treatment initiation will be investigated.
In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…
The study aims at examining the effect of an individual tailored lifestyle intervention to reduce the cardiovascular disease risk in people with FH.Secundary, the study aims at promoting a healthy lifestyle (no smoking, proper nutritional pattern,…
To determine, by measuring cIMT's, whether the abnormal lipid profile of GD I carriers and patients is associated with atherosclerosis and an increased risk of CAD.
We therefore set out to study the relationship of LCAT with atherosclerosis using 3.0 Tesla MRI mean wall area (MWA) measurements of the carotid arteries as a marker for atherosclerosis in a cohort of LCAT mutation carriers and compare them to…
Objectives Primary objective:- To determine if there is a difference in pro-hepcidin and hepcidin values in blood and urine between Gaucher patients and healthy controls, and between Gaucher patients and hemochromatosis patients. - To gain insight…
Since muscle biopsy is a invasive and risky operation, we hope to find a new way to diagnose mitochondrial disorders.
The primary oblective of the study is to elucidate all molecular mechanisms leading to coeliac disease.In order to establish the scientific basis for the development of improved diagnostics, novel therapies and safer foods for patients, in the CDC:…
Primary Objectives: 1. To tailor and apply multi-parametric, functional MRI techniques to identify cerebral abnormalities (cerebral biomarkers) in MELAS patients.2. To investigate which cerebral biomarkers are shared and differ between MELAS…
The aim of this study is to evaluate the efficacy, safety, compliance and tolerability of 15 years of pravastatin therapy initiated during childhood in young adult FH patients.