335 results
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…
1. The application of 4D flow MR imaging to analyse blood flow patterns (flow angle, flow asymmetry), regional vessel wall parameters (regional wall shear stress, vessel wall thickness) and pulsed-wave velocity in neoaortic root, carotid artery and…
To determine the variability of cognitive features in NF1 and TSC in the absence of genetic variability.
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 main aims of our study are 1) to make a clinical inventory of MD cases, 2) to identify (modifier) disease genes underlying MD and 3) to link the clinical data with the genetic data in a data-base.
The aims of the proposed study are (1) to test the reliability of knee moment-angle measurements, (2) to obtain insight how muscle and tendon characteristics in children with CP contribute to the limitations in range of motion (ROM) of the knee and…
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…
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…
Our objective is to obtain insight into whether and how the visual and auditory systems of hemispherectomized patients have adapted after brain damage and brain surgery in early life. For this purpose we will perform psychophysical tests and (…
The aim of this study is to evaluate the efficacy, safety, compliance and tolerability of 15 years of pravastatin therapy initiated during childhood in young adult FH patients.
Primary Objective(s): - To determine the relation between CPET and pulmonary and muscular performance in patients with Tetralogy of Fallot.- To study the effect of previous lateral thoracotomy on pulmonary function and exercise.Secondary Objective(s…
Objective: The primary objective of the study is to determine the effect of standard treatment with levothyroxine in TR*1 deficiency on:- Neutrophil and macrophage function- Erythropoiesis- Thyroid hormone target gene expression- Plasma metabolome
We aim to recognise potential genetic modifiers for mutations in PMS2. This will be approached through comparing a selection of CRC-related genes in the exome of members of a PMS2 family who differ in age of onset and severity of disease.
Protocol optimization for the GAITRite in m.3243A>G carriers
Primary objective:To compare the change in small airways obstruction (FEF75%) in patients with CF when inhaling one ampule of inhaled tobramycin with the Akita® compared to standard of treatment (twice daily nebulization of one ampule using standard…
(also see: C1. Protocol, page 12, paragraph 2)Primary Objective:Improving risk assessment of acute porphyric attacks and complications in patients with acute porphyria.Secondary Objectives: 1. Obtain and describe basic demographics and statistics,…
Primary objective:To determine the most optimal technique and timing of surgery for correction of peri-orbital osseous deformities (hypertelorism, vertical orbital dystopia, and/or midface hypoplasia) for each specific condition (1. syndromic…
To investigate the potential value of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI) on a 3 Tesla MRI system to visualize the spinal cord in SMA patients and to investigate motor connectivity in vivo in patients with SMA.
We aim to obtain more insight in the pathogenesis of DS. This replication study will focus on molecular determinants suchs as methylation and gene transcription. In addition, we will collect phenotypic information and link this with information…
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…