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Spinal Muscular Atrophy, SMN protein and Genetics; A population based study on spinal muscular atrophy in the Netherlands to explore the prevalence of SMA type 1-4 and their severity in the Netherlands by registrating all patients in a so called SMA-database, to elucidate the genetic factors determining disease severity and to determine the value of SMN protein concentrations as a surrogate marker for clinical trials.

The main objective of this prospective population-based study of patients with proximal SMA in the Netherlands is to register SMA patients in the Netherlands in a socalled SMA-database to study prevalence and severity of SMA types 1-4, to perform…

Ammendment of protocol: Intravenous iron treatment in iron deficient patients with idiopathic pulmonary arterial hypertension. Title amendment: Skeletal muscle strength in healthy persons and patients with pulmonary hypertension

To evaluate the effects of intravenous iron suppletion in iron deficient PAH patients.Amendment: to compare exercise capacity and isolated muscle strength in IPAH patients and healthy controls

A phase IIIb, open, multi-centre gynaecological extension study for the follow-up of a subset of HPV-015 study subjects

To provide clinical management and, if required, treatment to subjects who at their concluding HPV-015 study visit displayed normal cervical cytology but tested positive for oncogenic HPV infection or who were pregnant at their concluding visit of…

CD4+ T cells and immune ageing; major players and predictors for disease activity in giant cell arteritis

Primary Objective: to study the differences in CD4+ T cell subsets (Th1/Th2/Th17/Tregulatory/Tsenescent) between GCA patients and healthy controls at diagnosis and during follow up and in remission. Secondary Objective(s): - To characterize the cell…

Study R-FACT
Risk factors for alloimmunization against red blood cell transfusions: a case cohort study

The aim of the project is to examine the association between clinical, environmental and genetic characteristics of the recipient of erythrocyte transfusions and the risk or resistance to immunization against erythrocyte alloantigens that he/she was…

Clinical comparison of the straight lateral approach and the anterior approach to the hip.

The objective of this project is to 1. increase accuracy and reproducibility of the most critical step in hip arthroplasty i.e. cup positioning;2. to alleviate one of the major complications of the straight lateral approach, i.e. abductor…

*Energetics in hypertrophic cardiomyopathy: translation between PET, MRI and cardiac myofilament function*

Within this project we aim to determine the energetic conditions that underlie the transition to hypertrophy of the HOCM heart. A prospective comparison will be made between results of PET, MRI and function of cardiac myofilaments (in vitro). Also,…

Ventilator-Induced Diaphragm Dysfunction in ICU patients

PRIMARY OBJECTIVE1. To determine the contractile strength and the (ultra)structure of single diaphragm muscle fibers of mechanically ventilated patientsSECONDARY OBJECTIVE1. To determine whether diaphragm muscle fiber weakness is part of a…

Renal concentrating capacity and plasma AVP/copeptin levels during a water deprivation test in ADPKD patients versus healthy subjects and patients with chronic kidney disease.

Primary Objective: • To compare urinary concentrating capacity in ADPKD patients with healthy subjects and patient with IgA- or membranous glumerulopathy.Secondary Objectives:• To compare urinary concentrating capacity in ADPKD patients with an eGFR…

Anterograde amnesia with electroconvulsive therapy; severety and course; a prospective controled cohort study

This study aims at the questions about anterograde amnesia. How often does it occur in patients being treated with bilateral ECT for a depressive disorder, how does anterograde amnesia develop during the treatment course and how does it subside…

Muscle synergies in reaching movements of stroke patients

The aim of the current study is to identify couplings of muscle activation patterns (muscle synergies) in reaching movements in stroke patients. Insight in the motor control of stroke patients can contribute to improve the disabled arm functioning…

Visual processing in Autism-spectrum disorders

The main objective of the current study is to examine whether people with ASD have over-active inhibitory inter-connections in visual processing areas that can account for their over-sensitivity to perceptual dissimilarities.

Quantification of motor and sensory aspects of tonic dystonia

The objective of the present study is to obtain a better understanding of tonic dystonia by quantification of the motor and sensory characteristics of the condition, and to assess the relationship between both these parameters. Specifically, this…

Effort during listening: disentangling the contribution of auditory and cognitive functions to the
listening effort during speech comprehension.

This project examines their relative contribution using pupil dilatation and concentration cortisol and alpha amylase in saliva as objective measures of mental effort and questionnaires. Young and elderly normally hearing and hearing impaired…

Transfusion of fresh frozen plasma in non bleeding ICU patients

With the aim to restrict inappropriate FFP transfusions to critically ill patients, a randomized clinical trial will be conducted in a subgoup of ICU patients undergoing an invasive procedure. The objective is to assess the effectiveness and costs…

the Dutch Stent Thrombosis Study

1) identifying new predictors of ST, in particular of late and very late ST and drug eluting stent thrombosis2) to observe clinical outcome after an episode of a ST

The relation between cortical pathway activation and face processing in Autism Spectrum Disorder*

To study the relation between face processing and activation in cortical pathways in adults with Autism Spectrum Disorder.

Brain Structure and Development in Children and Adolescents with Prader-Willi Syndrome: A Combined Structural and Functional MRI Study

We aim to document the brain anatomy and functioning and development of children and adolescents of different ages who suffer from Prader-Willi syndrome in order to gain insight into the possible relation between the observed behavior and the brain…

A MR30365/07 dose-ascending, cohort group, single-blind pilot phase followed by a randomised, double-blind, placebo controlled parallel group study to compare the effect of intravenous MR30365/07 and intravenous fentanyl on respiration and analgesic responses, in healthy volunteers.

The aim of the main study is to compare the effects of MR30365/07 and fentanyl on ventilation and analgesic responses to noxious electrical and heat stimulation in healthy volunteers, by performing pharmacokinetic / pharmacodynamics (PK/PD) modeling…

Sampsons Theory of Endometriosis tested in Amsterdam by MRI: a case- control study.

The main aim is to validate the hypothesis by Sampson on retrograde menstruation by using modern imaging modalities. •to evaluate if the amount of blood-stained peritoneal fluid measured by TVUS and MRI during menses is greater in women with…