335 results
The primary objective is to assess neuropsychological function in X-ALD patients without active cerebral demyelinating disease. Data of minors will be compared to matched healthy controls. Data of adults will be compared to reference values. The…
The primary objective is to measure the longitudinal changes of PDE10A enzyme availability in the caudate, putamen, and globus pallidus of Huntington*s Disease Gene Expansion Carrier (HDGECs) by comparison of the follow-up and initial Positron…
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…
- to evaluate the FVIIa activity PK of 2 CSL689 dose levels in subjects with congenital FVII deficiency- to determine the PK characteristics of FVIIa activity of CSL689- to evaluate the safety and tolerability of intravenous administration of CSL689
The above anounced studies suggest that some abnormalities in the Wnt pathway can be expected to affect development and function of the brain, potentially leading to recognizable behavioural phenotypes. Given the key role of APC in the Wnt pathway,…
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 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 underpinnings of ADHD and its persistence into adulthood: Through studying genetic factors, in combination with genomic, microbiome, cell-based, neuroimaging, neuropsychological and psychiatric assessment we aim to gain more…
primary objective: To evaluate the long-term safety and tolerability of lumacaftor in combination with ivacaftor in subjects with cystic fibrosis (CF), homozygous or heterozygous for the F508del-cystic fibrosis transmembrane conductance regulator (…
Research questions:1. Does music therapy improve the expressive and communicative skills of patients with HD due to (specific) music therapy treatment? 2. Does music therapy change problem behavior of patients with HD?
The primary objective of this trial is to determine whether the combination of CPP-1X + sulindac is superior to either treatment individually, sulindac alone or CPP-1X alone, in delaying time to the first occurrence of any FAP-related event in the…
Primary Objectives:- Determine the effect of pulmonary vasodilatation on indexed cardiac output during simulated exercise.- Characterization of structural properties of small pulmonary arteries.Secondary Objectives: - Investigate the effect of…
Description of cognitive, psychiatric and neuroanatomical profile in adult women with triple X syndrome compared with a group of healthy controls on average of the same age and of the same IQ. IQ is considered as a potential confounder and treated…
The primary objective is to study if quantitative (3- and 7-Tesla) MRI protocols (MRI perfusion, diffusion tensor imaging (DTI), and chemical shift imaging (CSI)) are able to detect phenotype conversion earlier than conventional MRI. Results will be…
To investigate the origin of BA we will assess which TLR(s) is/are activated. To test the hypothesis that during development of BA and associated liver fibrosis there is a *leaky gut* and/or a change in microbiome we will use human material to…
The BAV study is a clinical and genetic study to unravel biomarker and imaging predictors of adverse outcome and to explore the pathogenetic basis of bicuspid aortic valves and it*s associated pathologies. We will also deliver insights in the…
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,…
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…
Patients with chronic respiratory failure currently start their ventilatory support in hospital as stated in national guideline. However, as these patients are severely disabled, a stay at the hospital for several days is experienced by many as very…
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…