335 results
The aim of this study is to optimize the protocol for gait analysis for children with mitochondrial diseasesSecundary- feasibility- reliability- reliability after exercise- compare with healthy controls- reference values for children
The purpose of Part A is to investigate how safe the study compound VX-152 is and how well the study compound is tolerated. The study will also investigate how quickly and to what extent the compound is absorbed into and eliminated from the body (…
The objective of this study is to compare the direct effect of repetitive tactile stimulation versus standard stimulation on the respiratory effort of preterm infants during stabilisation at birth. The most ideal comparison would be to compare…
The main objective of our Center for Translational Pediatric Pulmonology (CTPP) is to establish models of bronchial epithelial function in children, by (1) epithelial organoid cultures derived from bronchial epithelial cells; (2) bronchial brushings…
The goal of this research project comprises two important components that are intricately related:1) To define the pathophysiological state of the peripheral motor pathway in patients with SMA and to determine the contribution of the constituting…
Primary Objective: To identify the variability in the circulation of the number of patrolling monocytes and their expression of CX3CR1 obtained from adult ZZ-AATD patients compared to spouse controls.Secondary Objective(s): (1) To identify if low…
Using epigenetic, transcriptional, metabolomic and proteomic approaches in cardiac and skeletal muscle tissue, we want to reveal distinct biological pathways affected in ACM, DCM and PLN r14del cardiomyopathy.
The objective of this study is to further characterization the cholesterol pathways leading to storage of not only globotriaosylceramide (Gb3) en sphingomyelin (SM) in respectively Fabry disease and ASMD but also of storage of cholesterol in these…
Our objective is to find predictive biomarkers for disease progression in RVCL-S, a monogenetic small vessel disease, and to dissect disease mechanism to identify new treatment targets to improve health for RVCL-S patients, which may also serve as…
Part 1:Primary objective:• To evaluate the PK profile of a single oral dose of ESB1609 jetmilled Form A in plasma and compare this profile with the PK profile of ESB1609 monohydrate Form B with 30% SLS.• To compare the PK profile of different…
Primary Objective:Our main objective is to analyse if the microbiota composition of the affected skin is different from the non-affected skin in XRI and ARCI. Secondary Objectives:(1) To investigate the composition of the skin microbiota of patients…
Our research aims to establish informative tools in the laboratory for studying the molecular and cellular pathways that are altered in SETBP1 disorder.
- To assess the pharmacokinetic profile of cysteamine base after single dose administration of the new sustained-release cysteamine bitartrate (PO-001) to healthy volunteers, in comparison with Cystagon® and Procysbi®.- To collect safety/…
To show a reduction in FVIII-concentrate consumption with perioperative desmopressin and FVIII concentrate combination treatment compared to FVIII concentrate monotherapy, without decreasing the effectivity of treatment.
Single-stage bone-anchored hearing implant surgery in the pediatric population using the BHX implant
To compare implant loss between single-stage BAHI surgery (test group) and two-stage BAHI surgery (control group) in children. Furthermore, to compare soft tissue status, time to loading and duration of surgery between groups.
The primary objective of the CATCA-study is to develop a cfDNA based screening/surveillance tool for colorectal adenoma and cancer, both in the setting of the national CRC screening program and in the surveillance of LS carriers. Additionally, we…
To assess embryonic, foetal and placental growth trajectories by serial assessments of sizes and volumes and foetal morphology during the first, second and third trimester of pregnancy with the aim to examine whether BS influences embryonic growth…
The primary objective is to study the association between maternal TL and the risk of SB in offspring. The secondary objectives are to investigate the relation between maternal TL and obstetrical (pregnancy course and outcome), environmental risk…
The main objective of the study is to investigate MEG-based hippocampal and whole brain neuronal hyperactivity in preclinical DIAD mutation carriers and to find proof-of-concept for the translatability of findings from preclinical AD mouse models to…
This study has been transitioned to CTIS with ID 2023-508365-33-00 check the CTIS register for the current data. To determine the efficacy of ALNTTRSC02 in patients with hATTR amyloidosis by evaluating the effect on neurologic impairment. To…