112 results
The goal of this study is to characterize the natural history of STGD1 patients with the appropriate genotype for AON therapy and to identify the best clinical outcomes to measure therapeutic efficacy in clinical trials following completion of this…
This study has been transitioned to CTIS with ID 2022-502539-21-00 check the CTIS register for the current data. The purpose of this study is to determine the effect of nipocalimab on total serum immunoglobulin G (IgG) in pediatric participants 2 to…
The primary objective of the second part of the study, which is the focus of this application, is to perform a comparative analysis of the cognitive profile and MRI outcomes of DMD/BMD patients.
The primary objective is to evaluate longitudinal developmental changes in brain structure in patients aged 6-18 years with SCD. The secondary objective is to analyze the longitudinal relations between biomarkers, demographic characteristics, brain…
Primary objectives:To demonstrate that diagnostic sensitivity of plasma metanephrines (free and total) is superior to standard evaluation procedures (urinary Dopamine, HVA and VMA) at diagnosis and end-of-induction assessment.Secondary objectives:•…
This study has been transitioned to CTIS with ID 2024-518305-17-01 check the CTIS register for the current data. Primary objective:• To establish an improved fluconazole dosing regimen for paediatric and adolescent patients aged 2-18 years.…
To evaluate the efficacy and pharmacodynamics (PD) of ELX/TEZ/IVA
This study has been transitioned to CTIS with ID 2023-507041-28-00 check the CTIS register for the current data. The primary objectives of this study are to:• Evaluate the incidence and severity of late-onset targeted adverse events (AEs)/serious…
Our main goal is to develop an in vitro model to investigate the function of wildtype and mutant KDM2B in neuronal development. We want to use this model to investigate genotype-phenotype correlations, elucidate isoform expression in neuronal…
The main objective is to identify the optimal management for patients with an asymptomatic CPAM, based on functional outcome measures. Furthermore, the primary objective is to stratify asymptomatic CPAM patients into a low and high risk group for…
Primary objectives:To prospectively assess longitudinal changes in Proteolipid Protein 1 (PLP1) and additional disease-related biomarkers in cerebral spinal fluid (CSF) and blood and evaluate their utility in support of the development of therapies…
To examine the determinants of survival of donor RBCs in SCD patientsTo look into the effect of transfusion on the innate immune system of sickle cell patients, in particular, the phenotype of the neutrophils.
The aim of the study is to determine whether children who have been admitted to the ICU for an RSV infection in their first year of life and now are at school age:1. have more respiratory complaints than controls (based on a short questionnaire…
Primary objective: Explore, quantify and interpret the effect of 4-week intervention with 2 x 109 spores of BSCU1 on fecal sIgA, in healthy adults, elderly and 3-6 year old children.Secondary objectives:Explore, quantify and interpret the effect of…
To investigate whether electromyography of the diaphragm during sleep in asthmatic children can be used to objectively monitor asthma control.
1. To report the natural history of retinal degenaration in patients with biallelic mutations in the PCDH15 gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in PCDH15-related…
In this study, we aim to describe cognition and behaviour in patients with DS and analyse correlations between behavioural difficulties and various characteristics including: seizure severity; medication use; level of cognitive functioning; and…
The overall aim of the study is to develop innovative minimally invasive monitoring techniques that can identify lung inflammation in pwCF when using highly effective modulators, compared to patients whom are not eligible for CFTR modulators (…
This study has been transitioned to CTIS with ID 2023-507582-25-00 check the CTIS register for the current data. PRIMARY OBJECTIVESThe primary objective of MAKEI V is to assess in a randomized comparison whether the efficacy of Carboplatin (600 mg/…
This study has been transitioned to CTIS with ID 2024-516324-34-01 check the CTIS register for the current data. To evaluate (reduction of) intraoperative blood-loss with and without pre-operative TXA administration, in children undergoing a…