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Cardiometabolic consequences of Hereditary Fructose Intolerance

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…

Mapping the galactosemic brain: Finding the neural correlates of language impairments

To identify affected functional networks and underlying structural pathology of the cognition problems in galactosemia.

Insulin sensitivity in adults with a mitochondrial disorder.

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).

Cognition in classic galactosemia: What happens to the developing brain?

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.

Optimizing treatment and follow-up for acute porphyric patients.

(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,…

Lipid storage in Fabry disease and Acid Sphingomyelinase deficiency

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…

Biomarkers and cardiovascular risk in disease models of non-alcoholic fatty liver disease

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.

Study of the natural history of patients with rare inherited metabolic diseases, optimal treatment and complications

(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…

Magnetic Resonance Spectroscopy in Acid Sphingomyelinase Deficiency

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.

Effects and health economic aspects of enzyme therapy in children and adults with Pompe disease. Long-term follow-up of patients receiving commercially available Myozyme

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…

Residual galactose oxidation capacity and galactosylation abnormalities as possible predictors for galactose tolerance and outcome in patients with galactose-1-phosphate uridyltransferase deficiency

The objective of this study is to investigate the association of the residual galactose oxidation capacity (measured in vivo and in vitro) and of galactosylation abnormalities with outcome in patients with galactosemia.

Assessment of endogenous oxalate production and investigation of glyoxylate/oxalate pathways in primary hyperoxaluria patients and healthy subjects

Primary: Quantification of oxalate and glycine production in both healthy subjects and PH patients in order to obtain reference values for clinical trials.Secondary: To obtain more insight in the glyoxylate/oxalate pathway, and in particular the…