Search for a trial

Glycosylation Defects causing DYslipidemia

To characterize the dyslipidemias and their consequences in carriers of mutations in glycosylation genes.

MRI of the sacral plexus and sacral nerve roots in children with neurogenous bladder dysfunction with sacral or spinal anomalies

Gain insight in the anatomy and organisation of the sacral plexus in children with NB and congenital spinal or sacral anomalies. Possible findings can be compared with the results of the healthy subjects, in order to be able to relate findings to…

The half-lives of neutrophils in the blood and lungs of patients with cystic fibrosis

Objective of the study:The results of this study will lead to an improved insight in the lifecycle of these cells in health and diseases, and our results will be of importance for more insight in chronic inflammatory diseases particularly CF. For…

Identification of White sponge nevus syndrome.

We would like to report a case of an extra-oral manifestation of a White Sponge Nevus (WSN). The purpose of this study was to document a family spanning 6 generations with WSN. It is important to recognize to allow for appropriate genetic counseling…

The RVCL-MRI study: neuroimaging findings and cerebrovascular reactivity in preclinical and clinical disease stages of Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL), in migraine patients and healthy controls.

1. To assess neuroimaging hallmarks of RVCL disease stages;2. To evaluate cerebrovascular reactivity as a biomarker of endothelial (dys)function in RVCL patients, in migraine patients and healthy controls;3. To identify shared pathophysiological…

Assessment of the condition of the auditory nerve by diffusion tensor imaging: A pilot study

The main objective of this study is to test the feasibility of using DTI in combination with tractography to visualize differences between a degenerated and normal auditory nerve.

Initiation of chronic ventilatory support outside the hospital.

We want to investigate if it is possible to set up the entire process of home mechanical ventilation outside the hospital. This means practically that the patients will not be admitted to the hospital. The goal of this study is to answer the…

Dissecting Down Syndrome * Study on the Variability in Phenotype

We aim to obtain more insight in the pathogenesis of DS and the potential role of methylation in this by a small initial study (proof of principle). If the study shows a potential role of disturbed methylation in DS pathogenesis we will subsequently…

Coagulation and fibrinolysis in patients with resistance to thyroid hormone due to a thyroid hormone receptor β-gene mutation

To investigate the effect of resistance to thyroid hormone (RTH) due to a TRβ mutation on coagulation and fibrinolysis

A randomized controlled trial on the effects of periconceptional and prenatal folic acid supplementation on congenital anomalies and preterm birth

In the proposed study, two main issues will be addressed: first, it will be studied whether a high dose (4.0 mg) of FA supplementation periconceptional has an added value over the now recommended low dose of 0.4 mg in the prevention of congenital…

Chronic pain experience in adults with Down syndrome, with and without dementia, and the relationship with cognitive functioning.

The first aim of the present study is to examine whether the pain experience in adults with Down syndrome (without dementia) differs from the pain experience in adults without intellectual disability, after correction for mentale age, comorbidity…

HCHWA-D a monogenetic model for intracerebral hemorrhage

The overall aim of this study is to investigate the pathophysiology of ICH by investigating intracerebral hemorrhage in HCHWA-D patients. By investigating triggers for ICH, hematoma expansion, recurrence rate and outcome in HCHWA-D related ICH we…

Genetics of pelvic organ prolapse; identification of specific gene defects in patients and their family members.

Genetic analysis of the familial inheritance pattern of the COL3A1 2209G>A polymorphism.

Evaluation of the oral uracil loading test as a sensitive, simple and cheap method to detect DPD deficiency.

The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency

The Effect of Gaucher Disease on Bone Cells

This will be a pilot study that aims to gain insight into the effect of Gaucher disease on bone metabolism. For this purpose we formulated the following research questions:What is the effect of inflammatory factors in the serum of patients with…

Randomized trial to study the efficacy and adverse effects of the subcutaneous ICD in patients with a class I or IIa indication for ICD without an indication for pacing

To determine the efficacy endpoint whether the lack of ATP function will cause more appropriate but unnecessary shock therapy in patients with a S-ICD. Furthermore we will study the complication endpoint whether the S-ICD is superior to the TV-ICD…

Does classic galactosemia affect male fertility?

Comparing fertilty of male galactosemia patients to a control group

Cerebral Perfusion Imaging in Children with Sickle Cell Disease

To sess the relationship between cerebral perfusion and clinical findings (neurological and neuropsychological) in patients with sickle cell disease.To compare iamging fincdings in children with and without sickle cell disease.

Spatio-Temporal Image Correlation; the key to fetal EchocaRdiography
Part II congenital heart malformations.

1. To evaluate the clinical usefulness of STIC with post-process rendering capability. Our goal is to investigate whether STIC gives more accurate information about a suspected cardiac anomaly, compared to conventional 2D ultracardiography.2. To…

Evaluation of the potential of Real-Time 3-Dimensional echocardiography in the assessment of right ventricular function in patients with congenital heart disease: comparison of RT-3D echo with MRI.

The aim of this study is assessment of right ventricular function: a comparison between MRI and real-time 3-D echocardiography (RT 3-D echo). We have the following research questions: 1) Is assessment of right ventricular (RV) function with RT 3-D…