24 results
Primary Objective: To further optimize the IPMDSSecondary Objective(s): To determine in which age-groups the items within the IPMDS are appropriate To determine whether the IPMDS can assessed reliably by research nurses, students and physician…
Previous studies have suggested an association between FD and cognitive impairment but these were flawed either by lack of power, used variable assessment of cognitive functioning and/or merged results of different phenotypes and sexes. It is of…
To evaluate the prevalence of femoral head pathology in patients with MPS III.
Primary Objective - To determine if afamelanotide can reduce the severity of PLE related pruritis.Secondary Objectives- To determine if afamelanotide can reduce the frequency of PLE episodes;- To determine if afamelanotide can reduce the duration of…
Primary objective: - To determine whether afamelanotide can reduce the severity of phototoxic reactions in patients with EPPSecondary objectives:- To determine whether afamelanotide can reduce the number of phototoxic reactions in patients with EPP…
The objective of the study is to be able to determine the contribution of blood inorganic phosphate to the signal observed in skeletal muscle.
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
The objectives of the study are to evaluate the following in patients with a documented history of EPP:•determine whether CUV1647 can reduce the number of phototoxic reactions in patients with EPP•determine whether CUV1647 can reduce the severity of…
This study will evaluate the effect of approximately 10 years of pravastatin treatment on IMT in young adults with FH. Furthermore, safety parameters and psychological aspects with respect to early treatment initiation will be investigated.
The study aims at examining the effect of an individual tailored lifestyle intervention to reduce the cardiovascular disease risk in people with FH.Secundary, the study aims at promoting a healthy lifestyle (no smoking, proper nutritional pattern,…
To determine the prevalence of α-Galactosidase A deficiency in male patients presenting with renal failure, proteinuria or micro-albuminuria of unknown cause, at the outpatient clinic of the department of internal medicine of a large teaching…
The aim of this study is to evaluate the efficacy, safety, compliance and tolerability of 15 years of pravastatin therapy initiated during childhood in young adult FH patients.
Protocol optimization for the GAITRite in m.3243A>G carriers
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
To explore, whether markers of mitochondrial dysfunction measured in isolated PBMCs or immune cell subpopulations differ between subjects with mitochondrial disorders and cardiomyopathy and healthy volunteers.
To evaluate product acceptability, tolerance and adherence during an 8-week intake of PDE MAX in patients with Pyridoxine Dependent Epilepsy.To evaluate the effects on metabolic control by comparing the changes from baseline after an 8-week intake…
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…
The aim of this study is to investigate the effects of breastfeeding on lipid profile and cardiovascular risk markers in women with familial hypercholesterolemia (FH). In addition, breast milk composition and the transfer of statins to breast milk…
To evaluate Hex4 concentrations in CSF from patients with infantile-onset (IOPD) and late-onset (LOPD) Pompe disease
The objective of this study is to identify and develop laboratory measurements and other tests that may help develop treatments for Hunter Syndrome and, potentially, related diseases. The information learned from this study may also help doctors,…