18 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…
The primary objective of the study is Study to determine the Safety, Tolerability, Pharmacokinetics and Effect on Circulating Alpha-1 Antitrypsin Levels of ARC-AAT in Patients with Alpha-1 Antitrypsin Deficiency (AATD)
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).
To evaluate the efficacy of VX-661 in combination with ivacaftor and ivacaftormonotherapy through 8 weeks of treatment in subjects with cystic fibrosis (CF)who are heterozygous for the F508del mutation on the CF transmembraneconductance regulator (…
To identify novel diagnostic and prognostic (bio)markers of Dementia with Lewy Bodies.
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…
To determine the variability of cognitive features in NF1 and TSC in the absence of genetic variability.
The main objective of the study is to investigate the effect of a heparan sulphate glycosaminoglycan deficiency on the glomerular filtration barrier in humans. This main objective is approached through the secondary objectives of assessing whether a…
To evaluate the efficacy of VX-661 in combination with ivacaftor through 24 weeks of treatment in subjects with cystic fibrosis (CF) who are homozygous for the F508del mutation on the CF transmembrane conductance regulator (CFTR) gene.
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…
* To demonstrate the basic functionalities (robustness, reproducibility and overall performance characteristics) of the NGS-based haplotyping method.Secondary objective* To demonstrate concordance between embryonic biopsy genetic analysis results…
This study aims to investigate whether the clinically validated population based expanded preconception carrier screening (PCS) test, developed by the Department of Genetics of the UMCG, can be implemented responsibly via the general practitioner as…
We aim to develop three cognitive profiles to assess FTDr in HD patients; 1) Fit to drive, 2) No longer fit to drive, and 3) Dubious fit to drive and no longer fit to drive. The profiles will be determined with classic neuropsychological tests,…
Main objective:Part ATo evaluate the long-term safety and tolerability of VX-661 in combination with ivacaftor in subjects with CF, homozygous or heterozygous for the F508del-CFTR mutation who are in the Treatment Cohort.Part B and Part CNot…
The main objective of this (pilot) study is to investigate the role of glutamate in cognitive functioning in adults with 22q11DS using a glutamatergic challenge (riluzole )and high-field MRS. We will relate glutamate concentrations in the striatum…
To better understand the progression of early CF lung disease we aim to study lipid profiles and PMN dysfunction in relation to the severity of early lung disease in infants with CF, using BALF samples and peripheral blood. To optimally study these…