26 results
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…
1. Determine body composition of MD patients;2. Determine physical function of MD patients;3. Determine the association of body composition and physical function of MD patients.
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…
The main goal of the study is to develop and validate a device that provides an objective measure of degradation of motor performance in elderly people. The device will assist to diagnose neurodegenerative disorders in the elderly at an early stage…
To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.
Comparing fertilty of male galactosemia patients to a control group
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 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.
The primary objective of this study is to assess the efficacy and safety of Genz-112638 compared with Cerezyme after 52 weeks of treatment in patients with Gaucher disease type 1 who have been stabilized with Cerezyme. The secondary objective of…
(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,…
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.
Objective: Our proposed pilot study explores the safety, feasibility and efficacy of ketogenic diet in adults with mitochondrial myopathy to improve exercise intolerence and look for biomarkers that might predict patient response to the MAD…
(also see: C1. Protocol, page 9, paragraph 2)Primary: Creating a metabolic bio-database with body material of patients with inherited metabolic diseases, combined with clinical data.Secondary: Achieve better participation in national and…
To study the effects of PF-06835919 on fructose tolerance and intrahepatic lipid content in patients with HFI.
To assess the ability of MRI techniques to detect early stages of lipid accumulation in the liver of ASMD patients with the chronic visceral subtype compared to values of age-, sex- and BMI-matched healthy subjects.
To investigate the pharmacokinetics of hospital pharmacy compounded CDCA capsules, compared to the commercial alternative.
The primary objective is to test the feasibility of EGP quantification in adult GSDIa patients by stable isotopes after a single oral D-[6,6-2H2]glucose dose. Secondary objectives are to compare EGP assessed by a single oral D-[6,6-2H2]glucose dose…
This study has been transitioned to CTIS with ID 2024-518269-92-00 check the CTIS register for the current data. The objective of the study is to gather more information about the long-term effect of enzyme therapy in patients with Pompe disease…