81 results
Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…
Primary objective: To show that the variability of whole blood total and unbound plasma tacrolimus concentrations during the first 6 days post transplantation is larger than the variation of tacrolimus concentrations in stable clinical situation.…
Evaluate whether FVIII/VWF concentrates successfully induce immune tolerance in patients who have already experienced and failed immune tolerance induction with VWF-free FVIII concentrates.
- To evaluate the demographic, clinical and genetic characteristics of all known patients with a diagnosis of cystinuria and cystine nephrolithiasis in the Netherlands.- To evaluate the relationship between genotype and phenotype of all known…
The primary objective of the study is to demonstrate the reduction of low-density lipoprotein (LDL) cholesterol (LDL-C) by REGN727 in comparison with ezetimibe (EZE) 10 mg PO QD after 24 weeks in patients with primary hypercholesterolemia (…
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
The main objective is to improve exercise tolerance. Secondary objectives are: 1) improvement of motor function development, daily physical activity, quality of life, self perception of motor competence, and participation; 2) evaluation of cost…
Primary objective: To investigate whether pharmacokinetics of the recommended dose of inhaled tobramycin, defined as serum tobramycin Area Under the Curve (AUC0-24hr), with the I-neb (75 mg) is equivalent to the PariLCPlus (300 mg) nebuliser in…
The main objectives of this study are feeding techniques and skills and weight gain. Secondary objectives are NS feeding *feeding sequelae*, extent of the cleft, associated malformations, upper respiratory infections / pneumonia, medication (child…
The primary objective of this study is to determine whether mipomersen significantly reduces atherogenic lipid levels in patients with severe HeFH, defined as LDL-C levels equal to or above 5.18 mmol/L plus the presence of CHD/risk equivalents or…
First, to demonstrate whether Lanreotide attenuates progression of the renal phenotype in ADPKD patients as measured by change in rate of renal function decline and change in renal volume. Second, to demonstrate whether Lanreotide modifies…
The objective of this study is to collect blood samples of women who participated in the ALIFE trial, to test for several DNA-variations as well as anti β2 glycoprotein antibodies, but also to perform overall coagulation assays, such as clot lysis…
The primary objective of the study is to demonstrate the reduction of LDL-C by REGN727 as add-on therapy to stable, maximally-tolerated dialy statin therapy with or without other LMT in comparison with placebo after 24 weeks of treatment in patients…
The aims of this study are the ascertainment, characterization, and longitudinal follow-up of a large cohort of Dutch families segregating Parkinson*s disease, including affected and unaffected first-degree relatives. The cohort will be…
The objective of the study is to show that it is in principle possible to diagnose carriership of both partners of a couple by means of exome sequencing (proof of principle)
The aim of this study is to identify genetic defects underlying CHD and aortic aneurysms. This will provide insight in the aetiology and heredity of these diseases.
In this pilot study we intent to evaluate whether children born from TESE-ICSI treatment are at risk for increased de novo (pathological) mutations. This research is novel and pioneering, and never published before. We expect the outcome to be…
Our first aim is to find the cause of Parry-Romberg syndrome. The subsequent aim is to study the pathogenesis of the entity. The final aim is to find an effective management for the disorder.
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…
The aim of this study is to objectify nipple-areola complex sensitivity in women who underwent unilateral or bilateral prophylactic NSM in Erasmus MC-Daniel den Hoed Cancer Center and their satisfaction with this operation, compared to healthy women…