21 results
Primary objective- Short- and mid-term repeatability of mDLS and LSCI measures;- Comparison of blood flow obtained by LSCI and blood flow obtained by mDLS;- Comparison of coagulation status obtained by mDLS and coagulation status assessed by…
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…
The main object is to evaluate the validity of a diagnostic screening package for bleeding tendency consisting of point-of-care devices when compared with the gold standard for bleeding tendency diagnosis.Other objects which will be investigated are…
Assessment of the cutaneous and retinal microcirculation in SCD patients and matched controls:- Long- and short-term repeatability of LSCI and NiRFI ;- Comparison of cutaneous and retinal microcirculation between SCD patients and matched healthy…
Primary Objective: The here described study aims to strengthen the recently obtained results regarding increased expression of PK antigen in patients with PK-deficiency. This will be achieved by increasing the number of investigated patients and…
To investigate whether patients with hemophilia A develop less coronary artery atherosclerosis as compared to non-hemophilic males.
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…
This will be a pilot study that aims to gain insight into the effect of Gaucher disease on bone metabolism. For this purpose we formulated the following research questions:What is the effect of inflammatory factors in the serum of patients with…
To investigate the relation of platelet responsiveness and systemic platelet activity to phenotype in patients with severe hemophilia A.
To extend and strengthen the initial pilot observations on PKD red blood cells, and thereby further establish the activity of AG-348 treatment for PKD, UMC Utrecht and Agios Pharmaceuticals will collaborate in this pre-clinical study. In particular…
The aim of the FLOW project is to unravel immunological mechanisms driving inhibitor development in NSHA patients and HA carriers. We will focus on the association between (1) surgery , (2) intensive treatment, and (3) immunological biomarkers and…
Determine the feasibility and explore the efficacy and safety of electrosclerotherapy as a novel treatment option for capillary malformations.
Assessing different modalities of ektacytometry in diagnosing thalassemia and/or iron disorders. Investigating the influence of hemoglobinopathies and iron disorders on red cell membrane deformability in comoparison with healthy controls.
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 (…
General- To compare physical activity levels of pediatric patient subjects with healthy control subjects.- To compare mean heart rate and variation in heart rate during the day of patients and healthy controls.- To compare sleep duration of patients…
The main aim is to study early neurocognitive functioning and development in very young children with SCD. The secondary aims are to identify determinants (risk and protective factors) and biomarkers of early neurocognitive deficits in SCD and to…
Identification, segregation analysis, and functional characterization of genetic variants possibly causing rare bleeding disorders. The following questions will be answered:1) Can we identify (new) causal variants that explain the phenotype of…
Primary objective: to register and investigate Dutch patients suspect for an inherited platelet function disorder, to assess clinical presentation, bleeding score, treatment, burden of disease and quality of life. Secondary objectives: to…
Investigating red blood cell deformability changes, during treatment, measured with hyperoxia-hypoxia ektacytometry in sickle cell anemia patients, patients with HbSC disease and patients with HbS-beta-thalassemia.
Main objective: - To investigate pyruvate kinase thermal stability in haemoglobinopathies.Secondary objectives: - To investigate the possibility of stimulation of PK activity and thermal stability by use of allosteric activators- To investigate…