197 results
Primary Objectives*To evaluate the safety and tolerability of multiple oral doses of GLPG1837 in subjects with CF and at least one copy of the S1251N mutation.Secondary Objectives*To assess changes in sweat chloride from baseline (Day 1) as the…
To evaluate the effects of long-term intranasal oxytocin on social behaviour in children with PWS and to compare the effects of different doses and frequencies of oxytocin administration
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…
The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…
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?
To establish biomarkers in nipple aspirate fluid, follow them in time and link them to breast cancer development at its earliest stage in women at high risk for breast cancer. Threshold values of biomarkers will be determined that point to a…
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…
Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).
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…
To identify novel diagnostic and prognostic (bio)markers of Dementia with Lewy Bodies.
Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.
To assess the prevalence of BHD among patients with spontaneous sporadic and familial pneumothorax.
Primary objective of this study is to evaluate the clinical effect of a long term treatment (8 weeks) with oral B2-agonists in CF patients with residual CFTR function, especially on lung function (spirometry and airway resistance). Secondary…
The objective of the study is to show that it is in principle possible to diagnose carriership of both partners of a couple by means of exome sequencing (proof of principle)
The striking difference in uptake of Down*s Syndrome screening between countries that otherwise show close resemblance, particularly regarding healthcare policy, social and cultural factors (including non-directiveness of counselling, autonomous and…
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.…
We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…
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 objective of this study is to collect blood samples of women who participated in the ALIFE trial, to test for several DNA-variations as well as anti β2 glycoprotein antibodies, but also to perform overall coagulation assays, such as clot lysis…
Identification of the underlying genes of MMIHS