66 results
The objective of this extension study is to find out the potential long-term benefits and safety of tolvaptan. During this study all participants will receive tolvaptan.PRIMARY OBJECTIVE is to demonstrate whether tolvaptan modifies ADPKD progression…
* To study the relationship between inflammation on MRI and syndesmophyte formation with very detailedimaging methods: radiography, computed tomography (CT), 3 and 7 Tesla MRI. * To examine the time order of pathologic changes like inflammation,…
The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…
To investigate the effect of cholic acid supplementation on the clinical and biochemical parameters of Zellweger spectrum disorder
The primary objective is the safety and feasibility of CEA/frameshift derived neopeptide loaded DC in patient with MSI-positive colorectal cancer and persons who are known to be carrier of a germline MMR-gene mutation with no signs of disease yet.…
The main objectives are 1) is to evaluate the prevalence of cardiac complications long-term after ASO by investigation of cardiac function as well as clinical outcome and to determine which factors (associated with life style or operative techniques…
The aim of this prospective study is 1) to evaluate the diagnostic efficacy of DBE in comparison to MRE as surveillance technique of the small-bowel in PJS patients, 2) to analyze patient burden and quality of life with DBE and MRE, and 3) to…
Primary Objective: Analyse the behavioural response of individuals with Down's syndrome directly after a painful dental stimulus and compare this with video-analysed behaviour.Secondary Objective(s): 1) Determine which observational scale can…
Primary - to determine factors that predict outcome in children with symptomatic heart failure secondary to cardiomyopathy, in order to choose an optimal management strategy for these children. Secondary - to identify predictive factors that can be…
To evaluate the blood pressure within the first year of life we will perform a prospective longitudinal study in all newborn patients with the classical form of CAH. To analyze the urinary steroid profile in CAH patients and healthy controls during…
Primary Objective: Mapping the consequences of a congenital monokidney on kidney function for children with MCKD.Secondary Objective(s): - Giving recommendations about follow-up for children treated with nephrectomy for MCKD.- Defining better blood…
Our primary objective is to identify the patients with congenital heart defects in whom CHD7 mutation detection is needed. Secondly we want to identify the co-existing medical problems in children with a congenital heart defect due to a CHD7…
To compare the pharmacokinetic profile of uracil in cancer patients and healthy volunteers
The main goal of this study is to examine the clinical applicability of the Monica AN24*, for the use of this device in the LUMC for prolonged CTG-registrations in high risk pregnancies and particularly in monitoring fetal cardiac arrhythmias. The…
The objectives of the complete NIMBL study are as follows:Objective 1. Gain insight into the natural history of AGS and RVCL* Create a registry of paediatric and adult AGS and RVCL patients, and develop a network of clinicians caring for these…
The main aim of this project is to identify genetic and metabolic risk factors for mild MR and borderline intelligence.
To determine whether different MR-based imaging techniques and FibroScan can be used for the purpose of identifying and monitoring Gaucher Disease patients at high risk of developing disease related liver complications.
The main objective is to assess the frequency of hidden mosaicism, including Y material, in TS patients and examine the effect on: response to different GH doses and GH injection frequency regimens, aortic diameter and distensibility, congenital…
1. What are the effects of cinacalcet on clinical and biochemical parameters, including bone turnover markers, in patients with primary hyperparathyroidism due to a MEN-I mutation?2. What are the effects of cinacalcet on bone mineral density and…
1) What is the long-term course of tics and comorbid OCD, ADHD and Quality of life in patients with GTS? 2) What are determinants of favourable versus unfavourable course?