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KDM2B and the epigenetic machinery: an iPSC-derived model of a novel neurodevelopmental syndrome

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…

Targeting Pyruvate kinase as a therapeUtic option in rare aneMiA - PUMA-Study

We aim to further explore the role of decreased activity and stability of PK in several types of hereditary hemolytic anemia and non-regenerative anemia. Moreover, we will study the effect of restoring this instability using second generation (…

Dietary oxalate absorption and microbiome diversity in patients with nephrolithiasis and hyperoxaluria: a stable isotope technique.

With this study, we aim to gain insight in the influence of dietary oxalate on urinary oxalate levels by quantification of the intestinal oxalate absorption in patients with recurrent idiopathic calcium oxalate stones, primary hyperoxaluria, and…

He-move-philia, a combined lifestyle intervention program for patients with hemophilia and other congenital coagulation disorders

The aim of this exploratory study is to compare the effect of a lifestyle intervention program consisting of combined individual coaching and group sessions (CLI) with a lifestyle intervention program with individual coaching only (II).The program…

Newborns with Congenital Diaphragmatic hernia: inhaled Nitric Oxide versus intravenous Sildenafil: ;an international randomized controlled trial

To determine the most effective drug (iNO or IV sildenafil) for the treatment of PH in newborns with CDH and to reach evidence based dosing of this drug. Subsequently this drug will be added to the international guidelines for the treatment of…

A GnRH Agonist IN pre-menopausal women STudy to treat severe Polycystic Liver Disease

This study has been transitioned to CTIS with ID 2023-506637-30-00 check the CTIS register for the current data. The main objective of this study is to determine whether lowering estrogen and progesterone levels with leuprorelin decreases liver…

The role of glutamate and GABA in cognition in subjects with chromosome 22q11.2 copy number variants

The main objective of this study is to investigate the role of glutamate and GABA in cognition in healthy subjects with 22q11.2 CNVs and healthy subjects without 22q11.2 CNVs using high-field Magnetic Resonance Spectroscopy (MRS). Additionally, we…

An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of prenatal and/or postnatal infusion of allogenic expanded fetal mesenchymal stem cells for the treatment of severe Osteogenesis Imperfecta compared with historical and untreated prospective controls.;In the Netherlands patients will not be treated. Retrospective and prospective control patients will be included

This study has been transitioned to CTIS with ID 2023-504593-38-00 check the CTIS register for the current data. The aim of this trial is to infuse multiple doses of human 1st trimester liver-derived MSC for the treatment of severe OI to determine…

Better mechanistic understanding and risk stratification of ventricular arrhythmias through ECGI

Main objectiveTo identify and describe the electrophysiological substrate and triggers in patients with (an increased risk of) VTAs using ECGI, in order to improve understanding of arrhythmic mechanisms and use these for arrhythmia risk…

Assessment of myocardial function, endothelial function and perFUSION in early and advanced disease stages of Hypertrophic CardioMyopathy: FUSION-HCM

In different stages of HCM, to measure the: - Myocardial perfusion- Myocardial function- Volume parameters of the heart- Fibrosis- Function of the small vessels (endothelial (dys)function)- Diastolic function and strain of the heart

Expression of hSPCA1 and ultrastructural analysis of the skin before and after laser therapy in Hailey-Hailey disease

We aim to (1) study the expression of hSPCA1 in keratinocytes before and after laser therapy and (2) verify the loss of acantholysis by immunohistochemistry and electron microscopy of cell-cell adhesions before and after laser therapy.

Creation of disease model systems to understand and correct genetic diseases through gene or other therapy using iPS cells derived from somatic cells.

Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…

A CELL-based platform to study the role of the micRotubule network in pediatric inHeritable arrhYTHMia patients and Improve the effiCacy of drug treatment

Primary objectives: The first aim is to examine the role of microtubule network in electrical conduction, protein localization and function in induced cardiomyocytes from pediatric BrS patients, life threatening ventricular arrhythmia patients and…

Alveolar cleft repair using osteoinductive ceramics in children with unilateral cleft lip and palate

To provide for evidence that calcium phosphate based scaffolds generate equal amounts of residual bone volume compared to the use of autologous bone grafts in unilateral alveolar cleft grafting. A secondary objective is to prove that calcium…

Clinicopathological MRI and CSF correlates of iron accumulation, neurodegeneration and neuroinflammation in Huntington*s disease.

1. To quantify brain iron accumulation in patient with HD using quantitative susceptibility mapping (QSM) at ultrahigh field (7T) as compared to healthy controls (case-control design).2. To link QSM results with specific and well-known clinical CSF…

Impact of Alemtuzumab exposure on immune reconstitution, autoimmunity, risk of infection, chimerism and Graft-versus-Host Disease in children with non-malignant diseases undergoing allogeneic stem cell transplantation. ARTIC International Multicenter Observational Study.

Primary objectiveTo evaluate current clinical practice and develop a population based Campath® (Alemtuzumab) pharmacokinetics model for predicting total Alemtuzumab exposure after i.v. administration before allogeneic stem cell transplantation in…

Validation of bi-dimensional (2D) and three-dimensional (3D) Fourier Decomposition (FD) as Magnetic Resonance Imaging (MRI) technique to assess lung ventilation and perfusion compared to computed tomography (CT), Hyperpolarised gases (HP-MRI) and Contrast-Enhanced MRI (CE-MRI)

The final goal of this validation plan is to develop an MRI platform that can provide information about ventilation, inflammation, perfusion and structure (VIPS-MRI) in a single MRI examination of 30 minutes for safe and efficient monitoring of CFLD…

PIONEER: Psychiatric and Immune phenotyping of rare genetic neurodevelopmental syndromes

The aims of this study are:1. To describe the neuropsychiatric profiles associated with DDX3X syndrome, SETD1A syndrome, Koolen-De Vries syndrome, KBG syndrome, DYRK1A syndrome, Jansen-De Vries syndrome, Gabriele-De Vries syndrome, and Smith-Magenis…

Biomarkers in Intermediate Allele Carriers, Adult-, and Early-onset Huntington*s Disease Patients.

The primary objective:To identify fluid and radiological biomarkers, in IA carriers, AHD patients, and EoHD patients, that can be linked to clinical outcome measures. We aim to link longitudinal changes in these biomarkers to disease progression.…

The Origins of Pediatric Respiratory diseases: laying groundwork for genetic, cellular and immunological analyses. (OPeRA)

The main objective of this proposal is to establish ex-vivo models of bronchial epithelial cells from children. Use of (1) epithelial organoid cultures derived from bronchial or nasal epithelial cells; and of (2) bronchial brushings; (3) nasal…