1191 results
Objective: The main objective is to evaluate the monocyte phenotype of children with FH compared to normocholesterolemic controls and to explore the effect of statin treatment.
Investigating the long-term safety of personalized cholic acid treatment in patients with defects in bile acid synthesis based on clinical and biochemical parameters.
Connection Interrupted: Genetic causes and clinical characteristics of hereditary optic neuropathies
The goal of this study is to identify the genetic causes underlying hereditary optic neuropathies and establish genotype-phenotype correlations. This will lead to more reliable prognosis predictions, better genetic counselling and hopefully form a…
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…
Primary Objective(s):1. To study the presence and extend of exercise intolerance in male, female FD patients with classical FD and men with non-classical FD, in different stages of the disease.2. To determine the aetiology of exercise intolerance in…
The current project has two goals: (1) to measure viewing strategies used by children with normal vision, children with ocular visual impairment and children with CVI and (2) to evaluate whether training viewing strategies results in more efficient…
Primary objective of this study is to significantly reduce relevant (moderate/severe) parenchymatous brain injury on postoperative MRI for the total group (both prenatal and postnatal diagnosis) and the prenatal diagnosis group, which is needed to…
Primary Objective: To assess the efficacy, expressed by change in peak oxygen consumption obtained with cardiopulmonary exercise testing (CPET), of a HIIT program in patients with an RV-PA conduit.Secondary Objective(s): To determine predictors for…
Primary Objective: To assess the effectiveness of a personalized executive functioning training program for 4-6 year old children with severe CHD.Secondary objectives: - To relate training effectiveness to disease and treatment characteristics and…
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…
To explore safety, tolerability and efficacy of avalglucosidase alfa in previously treated alglucosidase alfa late-onset Pompe disease patients aged >= 5 years