1013 results
The family with the TRα2 premature stop enables us to investigate the biological role of the orphan wild-type TRα2 and the consequences of its dysfunction. The primary objectives of this proposal are (i) to search for a biological function of TRα2…
This study is aimed at determining pharmacokinetics and pharmacodynamics of medications routinely used at the Erasmus Medical Centre in pediatric cardiac surgery during and after cardiopulmonary bypass. The goal is to be able to formulate evidence…
The primary objective of the study is to demonstrate the reduction of low-density lipoprotein (LDL) cholesterol (LDL-C) by REGN727 in comparison with ezetimibe (EZE) 10 mg PO QD after 24 weeks in patients with primary hypercholesterolemia (…
The purpose of this trial is primarily to assess the efficacy of inhaled mannitol compared with a true placebo in subjects with cystic fibrosis aged 6 to 17 years.We hypothesize that inhaled mannitol will improve the overall health and hygiene of…
To gain a better insight into the genetic factors that play a role in the etiology of the thoracic aortic aneurysm with the following specific aims:1. Study of specific geneitc factos that play a role in the pathogenesis of both syndromic and non-…
Obtain information regarding the movement abilities and muscle strength in persons with several neuromuscular diseases, which can be used to develop a motion controlles arm suport for daily use and training of arm function.
1. Validation - of an independent geneset - of TLA technology as a new DNA diagnostic test for complete sequencing of selected genes.2. The search for structural chromosome changes in patients with ROW disease who where tested negative for mutations…
Primary: To compare the reduction in frequency of partial-onset seizures on each of two trough ranges of everolimus (3-7 ng/mL and 9-15 ng/mL) versus placebo in patients with TSC who are taking one to three AEDs. Key secondary: Ability to completely…
- To assess the burden of disease of congenital CMV infection in the Netherlands at the age of 5 to 6 years through the assessment of the occurrence of sensorineural hearing loss due to congenital CMV infection.- To establish the burden of disease…
The main objective is to improve exercise tolerance. Secondary objectives are: 1) improvement of motor function development, daily physical activity, quality of life, self perception of motor competence, and participation; 2) evaluation of cost…
Primary objective: To investigate whether pharmacokinetics of the recommended dose of inhaled tobramycin, defined as serum tobramycin Area Under the Curve (AUC0-24hr), with the I-neb (75 mg) is equivalent to the PariLCPlus (300 mg) nebuliser in…
The following research questions were formulated:• Does blood group P status (presence or absence of the 42C>T-SNP) correlate to GB3 content on fibroblasts and white blood cells of healthy controls?• Does blood group P status correlate to (…
The objective of the study is to assess the efficacy and safety of Alirocumab in patients with heterozygote familial hypercholesterolemia whose LDL-C level is higher than or equal to 160 mg/dL (4.14 mmol/L) on maximally tolerated statin therapy with…
(i) To compare the DBF response to capsaicin between cystinosis patients, homozygous and heterozygous for the 57-kb deletion, and matched controls.(ii) To compare the skin sensitivity response after capsaicin application between cystinosis patients,…
The primary purpose of the study is to investigate whether the new 20 mg capsule of Orfadin® (nitisinone) has a similar bioavailability in the body (gives the same concentration in the blood) as two of the marketed capsules of 10 mg. The secundary…
Objectives: 1. To investigate the types of antitrombin deficiency in these families2. To find the mutations in our families/patients with antitrombin deficiency.3. To establish the risk of VTE due to these mutations and subtypes.(comparing…
Primary objective: To show that the variability of whole blood total and unbound plasma tacrolimus concentrations during the first 6 days post transplantation is larger than the variation of tacrolimus concentrations in stable clinical situation.…
1. To obtain knowledge about the nutritional status of adult patients with mitochondrial disease and the determinants that contribute to this.2. Evaluate the effect of dietary intervention in adult patients with mitochondrial disease on nutritional…
The primary objective to our study is assessing functional outcome, quality of life, and genetic mutations in patients with a cloacal malformation. Functional outcome:- Colorectal functiono Objective: assessing colorectal function through the use of…
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.…