81 results
We aim to fill up the present gap in knowledge about HCO3- and mucus transport in native human intestine, and about possible effects of pharmacological correctors on these parameters in CF, by detailed electrophysiological and biochemical ex vivo…
PrimaryEffective treatment regimes and preventive tools of SIB in CdLS by studying phenomenology, etiology and pathogenesis.Secondary a. Development of a flow chart for daily care (diagnostics; management) b. Evaluation whether the present study can…
Primary Objective: The treatment result expressed as the proportion of successful treatments per treatment arm (successful = VUR <= grade 1 and/or no urinary-tract infections 6 months after the operation) does at least not show a significant…
The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…
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 primary objective of this study is to assess the efficacy of Ecopipam to reduce self-injurious behaviors (SIB) in adults and children with Lesch-Nyhan Disease (LND) in an outpatient setting. The secondary objectives of this study are to assess…
To evaluate the prevalence of femoral head pathology in patients with MPS III.
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…
The striking difference in uptake of Down*s Syndrome screening between countries that otherwise show close resemblance, particularly regarding healthcare policy, social and cultural factors (including non-directiveness of counselling, autonomous and…
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.…
- 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…
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 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…