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Genes and gene-function in bicuspid aortic valves

The primary objective of this study is to identify mutations associated with the development of a bicuspid aortic valve. To this end the study will focus on genes important for aortic valve formation. As an extension of the primary objective, a…

Natural course, effects of enzyme therapy and health economic aspects in patients with mucopolysaccharidosis type I, II and VI. Long-term folloe-up of untreated patients and patients receiving commercially available Aldurazyme, Elaprase and Naglazyme.

the objective of the current study is to evaluate the safety and efficacy of enzyme therapy in the Dutch population of patients with MPS I, II and VI; to compare this to the natural course of these diseases; to make an inventory of the direct and…

The developmental and implantation potential of aneuploid and mosaic human embryos, as assessed in an in vitro model

To increase our understanding of the developmental significance of chromosomal mosaicism in preimplantation embryos by investigating their implantation potential and the fate of abnormal cells after an in vitro implantation procedure.

Evaluation of the potential of Real-Time 3-Dimensional echocardiography in the assessment of right ventricular function in patients with congenital heart disease: comparison of RT-3D echo with MRI.

The aim of this study is assessment of right ventricular function: a comparison between MRI and real-time 3-D echocardiography (RT 3-D echo). We have the following research questions: 1) Is assessment of right ventricular (RV) function with RT 3-D…

A pilot study of immunorespons in children with Down syndrome after Respiratory Syncytial Virus (RSV) lower respiratory tract infections (LRTI)

The primary objective is whether a difference in innate and acquired immunorespons on RSV infection exists, in children with DS compared to healthy matched-controls.

Genetic modifiers of cardiac electrophysiology in a large Dutch family with the SCN5A 1795insD mutation

In the present study we aim to identify the genetic modifiers in this family which underlie differences in severity and type of phenotype by means of linkage analysis.

Pedigree research in families with Common Variable Immunodeficiency Disease.

Using pedigree research in two CVID-families to find clues for genetic testing.

Duchenne from the third Decade (3D)
Functioning, quality of life and needs of health care in adults with Duchenne Muscular Dystrophy and their informal caregivers.

The main research questions are:1a. What are the functional status on all levels of ICF and quality of life of adults with DMD?1b. What are determinants of functional status and quality of life?2a. What are burden of care and quality of life of…

Needs and problems of patients with a mitochondrial disease in the Netherlands.
Open interviews according to the grounded theory approach

Engelse tekst volgt indien onderzoeksvoorstel definitief moet worden voorgelegd aan de METC (in overleg met mevrouw Lilian Damen).

An open-label study of two single oral doses of galantamine, examining the pharmacokinetics, safety, and tolerability in children with Down syndrome

The primary objective is to determine the pharmacokinetic characteristics of galantamine after 2 single oral doses in children with Down syndrome. Secondary objectives are to evaluate safety and tolerability.

Web-based tailored information and question prompt for enhancing counselee participation and outcome; a RCT in breast cancer genetic counselling

This study aims to establish the effectiveness of web-based counselee-tailored information plus question prompt designed to 1) increase realistic expectations of breast cancer genetic counselling, 2) facilitate participation, question asking and…

Towards a new technique for pre-implantation genetic embryo screening in IVF, pilot phase

The objective of this study is to evaluate a new and less invasive method of PGS. The new PGS technique will analyse a nucleus of a blastomere that was obtained by nuclear extraction rather than by biopsy of a whole blastomere.

thrombin generation in plasma, the predictive value of endogenous thrombin generation (ETG)in relation to hypercoagulability and bleedingrisk

Assessing hereditary and aquired determinants of ETP. Evaluating the use of ETP as predictive stand alone test for recurrent DVT and bleeding complications due to anticoagulation therapy in comparisson with the current prediction methods.

A study of the effects of a novel ovarian stimulation regimen on embryo aneuploidy rates in IVF, and the impact of aneuploidy on implantation, as assessed in an in vitro model.

In this study we aim to compare the effect of two different ovarian stimulation protocols on embryo quality in a group of women of 39 years or younger, in a prospectively randomized controlled trial. PGS will be performed to assess chromosomal…

Genetics of Abdominal Aortic Aneurysms

To identify an AAA associated genes by a functional candidate gene approach.The identification of an AAA associated gene will have several impacts on this high prevalent disease:1. It will improve our understanding of the molecular pathways involved…

Prevention of communicative decline in the cognitively impaired. Intervention on disordered perceptive and productive functions.

Aim of this project is to diagnose hearing impairment, and underlying disorders in speech perception and production, and to develop and implement adequate intervention techniques, which are subsequently evaluated. The ultimate goal is to prevent…

The Impact of Psychological and Medical Factors of Women having a Child with a Congenital Anatomical Malformation on Subsequent Pregnancy Decision-Making: a psychological evaluation.

To identify factors that have an influence on the reproductive decision-making for a subsequent pregnancy of women having a child with congential anatomical anomalies.

A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablet Regimens in Adult Subjects with Autosomal Dominant Polycystic Kidney Disease

Primary objective:* Evaluate long-term effect of tolvaptan in ADPKD through rate of renal volume change(%) for tolvaptan-treated compared to placebo-treated subjects.Secondary objectives:* Evaluate long-term efficacy of tolvaptan in ADPKD through a…

Early diagnosis of right ventricular dysfunction in patients operated for tetralogy of Fallot. A multicentre study with serial follow-up.

In patients who have undergone surgical repair of TOF, we aim to- assess the development of RV dimensions and function in relation to clinical outcome, in a time dependent manner,- identify, chracterize and quantify markers in blood samples, using…

Improving an active lifestyle and sports participation in adolescents and young adults with meningomyelocele (MMC): Optimalisation and evaluation of an intervention.

The purpose of this study is to improve, implement and evaluate an intervention program to improve physical activity in daily life and sportsparticipation of adolescents and young adults with MMC. The purpose of the intervention "Active…