1191 results
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 objective of the study is to investigate if it is possible to predict the clinical outcome of a patient with SCN1A related epilepsy based on the findings of advanced genotyping. We aim to answer the following questions:1. Can clinical outcome in…
Objective 1To describe the course and underlying mechanisms of dysphagia in children with congenital myopathy (from 6 months to 12 years)Objective 2To formulate recommendations for early detection, diagnostic assessment , treatment and advices for…
To extend and strengthen the initial pilot observations on PKD red blood cells, and thereby further establish the activity of AG-348 treatment for PKD, UMC Utrecht and Agios Pharmaceuticals will collaborate in this pre-clinical study. In particular…
The overall aim of the proposed project is to identify mild PID in elderly patients that distinguish patients with RRTI from individuals with a healthy ageing innate and adaptive immune system. In innate immunity, normal immunosenescence is…
The primary objective of this study is to:* Evaluate the effect of GS-6615 on exercise capacity, as measured by Peak VO2 achieved during cardiopulmonary exercise testing (CPET), in subjects with symptomatic hypertrophiccardiomyopathy (HCM).The…
Primary objective: To determine the safety of once daily inhalation of the recommended daily dose of tobramycin with the Akita® and the PARI-LC® Plus nebulizer in patients with CF. Systemic absorption can be used as surrogate parameter for safety.…
The study objectives are to determine the incidence rate of FVIII inhibitors, frequency of adverse events (AEs), and serious adverse events (SAEs) associated with the use of CSL627, to evaluate the PK of 50 IU/kg CSL627, and to evaluate the efficacy…
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
The primary objective is to minimize fluid reaccumulation in the hepatic cyst after aspiration sclerotherapy in order to reduce cyst size. The secondary objectives are to reduce symptoms, improve health-related quality of life (HRQL), and reduce…
- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) prevent deterioration of the bladder and renal function?- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) decrease the need for an…
The primary objective is to measure the availability of the PDE10A enzyme in Huntington*s Disease (HD)gene expansion carriers (HDGECs) by estimating and comparing the distribution volume (VT) of the radioligand [18F]MNI-659 in the striatum (caudate…
Long term follow up is lacking in this database. A follow up study in which patients in the database are invited to a follow up exam and imaging would be a much more complete picture of the development of TLK in achondroplasten.
Primary Objectives: 1. To tailor and apply multi-parametric, functional MRI techniques to identify cerebral abnormalities (cerebral biomarkers) in MELAS patients.2. To investigate which cerebral biomarkers are shared and differ between MELAS…
Primary objective: to evaluate the image quality between the two protocols using Signal to Noise Ratio (SNR) measurements Secondary objectives: 1) test if measurements of lung volume and central airways dimensions using MRI are related to validated…
The primary objective is to determine the cefazolin penetration into hepatic cysts. Secondary objective are to identify factors affecting antibiotic penetration and to evaluate the association between antibiotic penetration and development of…
Objectives: The primary objective is to establish whether expiratory VOC analysis by electronic nose and GC-MS can: Ia) discriminate between patients (CF, PCD) with and without an exacerbation and Ib) discriminate between different microbial species…
To elucidate the molecular mechanisms underlying renal disease that lead to chronic kidney disease. To validate pathogenic variations in functional in vivo models.
The aim of the study is to evaluate whether these three genetic characteristics are able to predict the susceptibility to joint damage in haemophilia patients. Therefore we want to determine the association between the progression of radiographic…