30 results
Study i)Select the most valid and feasible accelerometer for measuring habitual physical activity in children with a mitochondrial disorderStudy ii)Measure the test-retest reliability of this instrument
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
Based on the gaps in our knowledge (as stated above), we have formulated the following objectives:- To quantify the degree of hepatic fat accumulation and fibrosis in patients with HFI. - To gain more insight in the mechanism leading to NAFLD in…
The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
Primary Objective: *Which outcome measure should we use to measure disease severity and disease progression in this specific group?*To test the feasibility (% of patients who were able to complete the test) of the selected outcome measures.To test…
To investigate whether patients with VLCADD have a different energy metabolism compared to healthy controls.
The primary objectives are: 1. To assess BBB integrity in MPS IIIB patients by estimating the CSF AI.2. To determine the BBB transfer coefficient by DCE-MRI in MPS IIIB patients.The secondary objectives are: 1. To describe the relationship between…
A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…
1) To assess whether galactosemia women with ovarian failure are able to produce estradiol after exogenous (normally bioactive) FSH and LH gift 2) To characterize FSH glycan structures
The aim of the study is to investigate insulin sensitivity in patients with an inborn mitochondrial disorder due to a defect in the oxidative phosphorylation (OXPHOS).
In this study we aim to elucidate which areas of speech are specifically affected in children and adolescents with classic galactosemia and to sketch a profile of the galactosemic patients* general cognitive functions.
To investigate the prevalence of anemia in EPP patients, related to the severity of symptoms and to investigate the cause of this anemia.
1. Define the clinical spectrum in female carriers of creatine transporter defect. 2. Correlate the clinical phenotype with X-inactivation studies.
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
(also see: C1. Protocol, page 12, paragraph 2)Primary Objective:Improving risk assessment of acute porphyric attacks and complications in patients with acute porphyria.Secondary Objectives: 1. Obtain and describe basic demographics and statistics,…
To investigate the potential of a novel dietary substrate preparation to enhance muscle mitochondrial function in GSD IIIa via acute nutritional ketosis. Secondary objectives are to further investigate in vivo exercise tolerance and intramuscular…
The objective of this study is to further characterization the cholesterol pathways leading to storage of not only globotriaosylceramide (Gb3) en sphingomyelin (SM) in respectively Fabry disease and ASMD but also of storage of cholesterol in these…
1. To identify a biomarker of hepatic DNL in different disease models of NAFLD. 2. To assess the cardiovascular risk profile in the different disease models of NAFLD.