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A nationwide natural history study in Becker muscular dystrophy: Modeling a slowly progressive neuromuscular disease to prepare for clinical trials.

The primary objective is to develop a disease model predicting clinical meaningful changes based on a combination of results of tests on clinical function, muscle MRI, echocardiography and circulating biomarkers applicable in various stages of…

Brain INvolvement in Dystrophinopathies: BIND: Deep functional phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy patients (WP5) Part 2

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.

Brain structure and neurocognitive development in sickle cell disease; a longitudinal cohort study (BRICK study)

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…

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…

Interoceptive abilities in adolescents with anorexia nervosa

Objective: The primary objective of this study is to investigate interoceptive abilities in adolescents with AN. To capture the multidimensional perspective, interoceptive abilities will be studied on an accuracy, sensibility and awareness level.…

Immunophenotypic Profile of Peripheral Blood Mononuclear Cells and T cell Function in Sickle Cell Disease Patients.

The characterization of the immunophenotypic profile of PBMC subsets in steady state SCD patients. The determination of general T cell function in SCD patients. Both will be used as reference profiles in further research evaluating immune…

TAAI Erasmus Research Initiative to Fight CF: Monitoring Inflammation in CF Lung disease into a new Era

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 (…

Testing an increased visit interval scHeme UsIng web-based Self-evaluation (THUIS-study)

Our objective is to safely increase the visit interval to 6 months in JIA patients with stable disease. The skipped 3-month visit isreplaced by a self-evaluation via e-mail by EQ-5D-5L-Y and JAMAR questionnaires that will be send via Castor EDC.…

Advanced Early Detection of airway pathogens in children and adults with Cystic Fibrosis during routine follow-up and exacerbation.

Primary Objective: To investigate the yield of two methods of exhaled breath analysis (PCR based and VOC based) in the detection of Pseudomonas aeruginosa colonization or infection in young patients with cystic fibrosis (CF).Secondary Objective(s):…

A Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Label Extension (RESILIENT)

This study has been transitioned to CTIS with ID 2024-511852-42-00 check the CTIS register for the current data. Primary Objective:To evaluate the efficacy of taldefgrobep alfa in participants who are already taking a stable dose of nusinersen or…

Genetic Risk factors for Multi-system Inflammatory Syndrome in Children and Pediatric Post COVID condition (GRIP)

Primary objective: To identify rare, high impact genetic variants in immunological genes and pathways in children with a history of MIS-C or pediatric post-COVID condition. Secondary objectives: To analyze the clinical characteristics and long-term…

A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study to
Evaluate the Efficacy and Safety of Mitapivat in Pediatric Subjects With Pyruvate Kinase
Deficiency Who Are Regularly Transfused, Followed by a 5-Year Open-label Extension Period

This study has been transitioned to CTIS with ID 2024-515024-37-00 check the CTIS register for the current data. To determine the efficacy of treatment with mitapivat compared with placebo, as assessed by the reduction in transfusion burden in…

Metabolomics in Dravet syndrome

Primary Objectives: 1. To assess the metabolic profile of patients with Dravet syndrome and identify metabolic variations that contribute to the pathophysiology of seizures and developmental delaySecondary Objectives:2. To assess the association…

BRAINmodel: Clinical characterization and understanding of excitation/inhibition ratio homeostasis in children with genetic syndromes caused by chromatin- or synapse regulatory factors.

In this study we aim to further characterize E/I balance (at different translational levels), and its relation to metabolic- and immune processes, clinical profiles, behavior and cognition

A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy, Safety, and Tolerability of INCB000928 in Participants With Fibrodysplasia Ossificans Progressiva (PROGRESS)

This study has been transitioned to CTIS with ID 2023-504129-38-00 check the CTIS register for the current data. Primary:To determine the efficacy of INCB000928 for the prevention of new HO in participants with FOP.Key Secondary:To further evaluate…

A Phase 3b/4 Randomized, Open-label, Efficacy Assessor Blinded Study, Comparing the Safety and Assessor Blinded Efficacy of Upadacitinib to Dupilumab in Subjects with Moderate to Severe Atopic Dermatitis (Level-Up)

This study compares upadacitinib to dupilumab in adolescent and adult participants with moderate to severe AD who have inadequate response to systemic therapies. Adverse events and change in the disease activity will be assessed.

Neurological, cardiovascular, visual and neurocognitive performance in pediatric HIV-1- infected patients as compared to healthy controls NOVICE - III a follow up study

This study is a follow-up study of the NOVICE I & NOVICE II (METC 2012_093 and METC 2016_173). The objective of the study is to both cross-sectionally and longitudinally, after an interval of 10 years, gain more insight into the presence,…

A Phase 1-3 Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION363 in Amyotrophic Lateral Sclerosis patients with Fused in Sarcoma mutations (FUS-ALS)

This study has been transitioned to CTIS with ID 2024-512163-31-00 check the CTIS register for the current data. Primary objective: To evaluate the clinical efficacy of ION363 in clinical functioning and survival in FUS-ALS patients. Secondary…

An international prospective umbrella trial for children with atypical teratoid/rhabdoid tumours (ATRT)
including
A randomized phase III study evaluating the non-inferiority of three courses of high-dose chemotherapy (HDCT) compared to focal radiotherapy as consolidation therapy

This study has been transitioned to CTIS with ID 2022-501456-28-00 check the CTIS register for the current data. Primary objectives Part A:To test the non-inferiority, as evaluated by OS, of three courses of HDCT compared to focal RT plus…

Decoding personalized nutritional, microbiome and host patterns impacting clinical and prognostic features in Crohn*s disease

By means of this study we want to find out whether there are certain characteristics that can influence or predict the course of Crohn's disease. We want to do this by collecting data on diet, inflammation levels in the blood, complaints and…