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Quantification of trans-intestinal cholesterol excretion in patients with familial hypobetalipoproteinemia

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…

Quantification of trans-intestinal cholesterol excretion in patients with familial hypobetalipoproteinemia

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…

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.

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

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…

Effect of Fecal transplant harvested from Bariatric surgery subjects on Lipid and Glucose metabolism in subjects with metabolic syndrome;

To investigate whether single dosis of fecal therapy by infusion of allogeneic (post bariatric surgery donor feces in the bowel) or autologous (own feces) have differential effect on lipid-metabolism-mediated insulin resistance.

Assessment of cardio vascular risk by measurement of carotid intima-media thickness (cIMT) in adult type I Gaucher disease patients.

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.

Study To Investigate Carotid atherosclerosis in carriers of LCAT gene mutations and unaffected family controls: A 3.0 Tesla Magnetic Resonance Imaging study

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…

pro-hepcidin and hepcidin levels in blood and urine of Gaucher patients in relation to iron homeostasis.

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…

Celiac disease: interplay between genes and the environment. Towards the unraveling of disease initiating events.

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:…

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…

Trained immunity in children with FH that undergo cholesterol lowering treatment

Objective: The main objective is to evaluate the monocyte phenotype of children with FH compared to normocholesterolemic controls and to explore the effect of statin treatment.

Biomarkers Of Lung InVolvement In ASMD

Our aim is to characterize ASMD patients* breath profile, exhaled breath and condensate as compared to healthy controls to identify specific volatile and non-volatile compounds that reflect inflammatory processes, fibrotic processes or sphingolipid…

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…

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…

Unravelling the mechanism of azoospermia in nephropathic cystinosis

To clarify the mechanism of azoospermia in male cystinosis patientsTo determine the cause of azoospermia in male cystinosis patients as obstructive or non-obstructive by non-invasive means (clinical examination, reproductive hormonal profile,…

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…