73 results
Monitoring and evaluation of the Dutch guideline for treatment of aHUS in children and adults during two years.
Primary Objective: to determine the prevalence of MTWA in adults with congenital heart disease who are deemed to be at high risk for ventricular arrhythmias and sudden cardiac death.Secondary Objective(s): • to describe the clinical usefulness and…
The primary objective for this study is to evaluate the cerebrovascular reactivity of HCHWA-D patients:1. To compare the (autoregulatory) function of small brain vessels in HCHWA-D patients with matched controls using the cerebrovascular reactivity…
The overall aim of the study is to improve diagnostic and therapeutic options for people with CF, especially in the context of young children and novel CFTR-targeting drugs. Primary Objective: 1. to demonstrate relations between CFTR genotype,…
1. To study the mechanisms that control endothelial and platelet secretion using blood outgrowth endothelial cells (BOECs) as an ex vivo model of endothelial and platelet secretion, in order to identify new regulators of and further unravel their…
Primary objective- Short- and mid-term repeatability of mDLS and LSCI measures;- Comparison of blood flow obtained by LSCI and blood flow obtained by mDLS;- Comparison of coagulation status obtained by mDLS and coagulation status assessed by…
The objectives of the study are to assess the safety and tolerability of ascending doses of SAR422459 in patients with Stargardt macular disease and to evaluate the possible biological activity of SAR422459.
The primary objective of this study is to investigate the effect of different levels of oral phenylalanine supplementation on the blood concentration and diurnal variation of phenylalanine and tyrosine in HT1 patients treated with NTBC. This in…
Primary Objective:To evaluate the effect and sustainability over time of behavioural treatment for sleep problems in children with AS on the actual hours of sleep and sleep behaviour of the children.Secondary Objectives:To evaluate the effect and…
We aim to proof that introduction of (rapid) NGS-based sequencing (WES/WGS) as a first tier genetic test in the diagnostic process for critically ill newborns admitted at the NICU and patients with severe neurodevelopmental disorders leads to faster…
The purpose of the study is to investigate how safe GLPG2737 is and how well GLPG2737 is tolerated. It will also be investigated how quickly and to what extent GLPG2737 is absorbed into, distributed in, and eliminated from the body (this is called…
Investigate clinical anomalies in the intraocular tissues, especially the accommodation system, in RDEB patients.
The objective of this study is to compare the direct effect of repetitive tactile stimulation versus standard stimulation on the respiratory effort of preterm infants during stabilisation at birth. The most ideal comparison would be to compare…
Performance is the primary objective of this study and is defined as the ability of the in vitro diagnostic micro-assay to measure von Willebrand factor induced platelet aggregation in accordance with the golden standard diagnostic method, risto-…
(Primary) Determine whether measuring the expression level is a good functional test for confirming the genetic diagnosis in IRIDA by establishing the relation between the TMPRSS6 mRNA expression and the phenotype in IRIDA patients and their family…
Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…
The primary objective is to investigate the determinants of aortic root deformation occurring >= 3 months after successful ASO implantation in adult patients with an atrial septal defect.
The purpose of Part A is to investigate how safe the study compound VX-152 is and how well the study compound is tolerated. The study will also investigate how quickly and to what extent the compound is absorbed into and eliminated from the body (…
Primary objectiveTo investigate the presence of plasma abnormalities in treated and untreated patients with ASMD to determine whether they can potentially serve as useful biomarker . Therefore we will determine- sphingolipids and *metabolites-…
The aim of this study is to determine whether male microchimerism is present in patients with MRKH syndrome. This would be a sign of intrauterine cell trafficking - and possible AMH transfer- from male to female co-twin. This placental blood…