121 results
Main objective is to investigate if fetal DNA samples non-invasively obtained by the TRIC method provide the same prenatal genetic test result as diagnostic testing performed on samples obtained invasively by CVS, currently the gold standard. This…
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…
Identify the predicted best clinical responders and predicted low-responders (based on amount of organoid swelling) to new CFTR-modulators out of 500 unique patient-specific intestinal organoids screened for in-vitro drug efficacy. The 81 identified…
Primary objective: To classify the effect of the pharmacogenetic profile of CYP2C19 and CYP2D6 in HD gene carriers, compared to more classic medication prescribing parameters (such as age and comorbidities) on negative medication effects of HD-…
To validate and assess the impact of the use of the MyCyFAPP system for self-management in children with CF, more specifically the effect on patients* quality of life, nutritional status, gastro-intestinal symptoms, general wellbeing and economic…
Primary Objective: - To determine the rate of functional vestibular abnormalities in 22q11DSSecondary Objective: - To determine the rate of anatomical malformations of the inner ear in 22q11DS- To study the relation between vestibular functioning…
1. To further unravel biochemical abnormalities in SLS patients2. To study neuro-retinal changes over time to learn more about involved neurons and pathomechanism of ophthalmologic abnormalities in SLS patients 3. To study quality of life and daily…
To investigate the occurrence of live birth in women with TS after ovarian tissue cryopreservation in childhood followed by auto transplantation in adulthood.
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…
With this study we aim to define a detailed oral motor, speech and language profile for patients with SAS.
PRIMARY OBJECTIVESParts 1 & 2* To assess safety and tolerability of the combination of GLPG2451 and GLPG2222, with and without GLPG2737 in adult subjects with CF* To characterize the PK of GLPG2451 and GLPG2222, with and without GLPG2737 (…
Primary objective: To evaluate the safety and tolerability of SOBI003 at different dose levels.Secondary objectives:1. To characterize the pharmacokinetic (PK) properties of SOBI003 following single and repeated administration by the use of non-…
Primary aim: to confirm that treatment with bumetanide improves daily life functioning and reduces behavioral symptoms related to hyperexcitability in children and adolescents with TSC.Secondary aim: to identify neurophysiological and cognitive…
To explore the relationship between hormone levels and HRQoL in patients with TS and KS.
To determine whether serum soluble VEGFR1 is also reduced in HHT2 patients and might be used as marker of disease severity.
To identify which patient characteristics and biomarkers can contribute to a better prediction of complications in patients with thoracic aortic disease. This will result in better risk-prediction with reassurance of low-risk individuals and…
Evaluate the clinical progression in patients with MPS IIIA who are untreated with any investigational product and to obtain standardized assessments: neurocognitive, behavioural, sleep-wake habits and effect of MPS IIIA on the quality of life of…
It is a two-step approach study: The main objective in the first approach is to obtain a mathematical predictive model (MPM) adapted to each patient*s gastrointestinal conditions that calculates the optimal amount of enzymatic supplements for the…
To provide further evidence for the role of long-term epigenetic effects of an extra chromosome 21 on HPT-axis associated genes as an explanation of DS associated thyroid phenotype, in a series of DS individuals in whom data on thyroid functioning…
This study is designed to gather prospective data on a) the clinical effectiveness, b) the tissue structure changes, and c) the short term costs of ankle joint distraction (AJD) in 10 patients with HAA during 10 years follow-up.