1189 results
• Compare bone density between patients with mild haemophilic and those with severe haemophilia*.• Compare the relationship between treatment regimen: prophylactic (high-dose vs. intermediate dose) and on-demand and bone density.• Examine the…
The main objective of the separate studies of this study is the evaluation of grasping performance when electrotactile or vibrotactile feedback is provided compared to the non-feedback and only visual feedback situation. The main question to be…
Primary objective:• Assess the pharmacokinetics (PK) of rVWF:rFVIII and rVWF, and to assess the safety and efficacy of rVWF:rFVIII and rVWF in the treatment of bleeding events in subjects with severe hereditary VWDSecundary objectives:• Compare the…
This current study aims to investigate the use of Curios bèta-TCP, a synthetic tricalcium phosphate for repair of the alveolar cleft in patients with clefts of lip, alveolus and palate.The specific properties of Progentix TCP result in optimal and…
To find new genes causing congenital MPHD associated with the characteristic MRI abnormalities of ectopic posterior pituitary gland and absent/thin pituitary stalk.
Primary - to determine factors that predict outcome in children with symptomatic heart failure secondary to cardiomyopathy, in order to choose an optimal management strategy for these children. Secondary - to identify predictive factors that can be…
The primary purpose of the study is to investigate whether the new 20 mg capsule of Orfadin® (nitisinone) has a similar bioavailability in the body (gives the same concentration in the blood) as two of the marketed capsules of 10 mg. The secundary…
Objectives: 1. To investigate the types of antitrombin deficiency in these families2. To find the mutations in our families/patients with antitrombin deficiency.3. To establish the risk of VTE due to these mutations and subtypes.(comparing…
The primary objective is the safety and feasibility of CEA/frameshift derived neopeptide loaded DC in patient with MSI-positive colorectal cancer and persons who are known to be carrier of a germline MMR-gene mutation with no signs of disease yet.…
A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…
Primary: To evaluate the effect of 12 weeks of subcutaneous (SC) AMG 145 every-2-weeks (Q2W) and every-4-weeks (Q4W), compared with placebo, on percent change from baseline in low-density lipoprotein cholesterol (LDL-C) in subjects with heterozygous…
Does the lack of the Aquaporin-2 water channel cause cyst formation in patients suffering from nephrogenic diabetes insipidus?
to investigate the effect and efficacy of pyridostigmine on muscle strength and fatiquabillity in patients with SMA.
The objectives of this study are:1. to evaluate the occurrence and distribution of structural brain changes in HHT patients with and without pulmonary AVMs as compared to healthy age matched controls;2. to evaluate the (autoregulatory) function of…
The primary objective is to minimize fluid reaccumulation in the hepatic cyst after aspiration sclerotherapy in order to reduce cyst size. The secondary objectives are to reduce symptoms, improve health-related quality of life (HRQL), and reduce…
- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) prevent deterioration of the bladder and renal function?- Can early Botox-injections in the bladder of patients with meningomyelocèle (MMC) decrease the need for an…
Primary Objectives: 1. To tailor and apply multi-parametric, functional MRI techniques to identify cerebral abnormalities (cerebral biomarkers) in MELAS patients.2. To investigate which cerebral biomarkers are shared and differ between MELAS…
1. To assess the long term outcome of surgical treatment for bilateral undescended testes with special regard for the fertility potential. 2. In the past 2 different techniques have been used for orchidopexy (with or without involving of the tunica…
primary objective: To evaluate the long-term safety and tolerability of lumacaftor in combination with ivacaftor in subjects with cystic fibrosis (CF), homozygous or heterozygous for the F508del-cystic fibrosis transmembrane conductance regulator (…
The main objective is to determine if bisphosphonate therapy with etidronate leads to stabilization or attenuation of ongoing calcification in the leg arteries as quantified by 18F-sodium fluoride(18F-NaF) PET-CT imaging in patients with PXE.…