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Treatment of Ectopic Mineralization in Pseudoxanthoma Elasticum.

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.…

The role of the pulmonary vasculature in the Fontan circulation

Primary Objectives:- Determine the effect of pulmonary vasodilatation on indexed cardiac output during simulated exercise.- Characterization of structural properties of small pulmonary arteries.Secondary Objectives: - Investigate the effect of…

Unravelling aetiology and risk factors in patients with a Bicuspid Aortic Valves * study of clinical outcome and genetics

The BAV study is a clinical and genetic study to unravel biomarker and imaging predictors of adverse outcome and to explore the pathogenetic basis of bicuspid aortic valves and it*s associated pathologies. We will also deliver insights in the…

Searching for Explanations for Cryptogenic Stroke in the
Young: Revealing the Etiology, Triggers, and Outcome

Area of interest (study setting): Specific aims:Transient triggers and chronic riskfactors (case-crossover and casecontrol)(1) To investigate frequency and strength of association between transient physical andpsychological triggers and early-onset…

Creation of disease model systems to understand and correct genetic diseases through gene or other therapy using iPS cells derived from somatic cells: *the iPS study*
Addendum A: "Informatie voor proefpersonen en bijbehorend toestemmingsformulier voor de vervaardiging en het gebruik van geïnduceerde Pluripotente Stamcellen (iPS cellen) voor patiënten met een cardiovasculaire aandoening."

Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…

Evaluation of the VU-AMS device during follow-up of children with congenital heart disease

To evaluate the clinical usefulness of the VU-AMS in pediatric cardiology.To validate and improve the measures of stroke volume from the VU-AMS device in a clinical population. VU-AMS stroke volume measures will be compared with stroke volume…

Study of the genetic causes of disorders of the aorta, arteries and cardiac valves

To gain a better insight into the genetic factors that play a role in the etiology of the thoracic aortic aneurysm with the following specific aims:1. Study of specific geneitc factos that play a role in the pathogenesis of both syndromic and non-…

TLA Technology: a new DNA diagnostic test to sequence genes that cause the disease and detect new mutations: proof of concept study voor patients with Rendu-Osler-Weber disease.

1. Validation - of an independent geneset - of TLA technology as a new DNA diagnostic test for complete sequencing of selected genes.2. The search for structural chromosome changes in patients with ROW disease who where tested negative for mutations…

Influence of menarche and menstrual cycle on QTc interval in girls with genotype positive LQT1 and LQT2

Evaluate the effect of menarche and menstrual cycle on the QTc interval among girls with genetically-confirmed mutations causing LQTS type 1 (LQT1) and type 2 (LQT2).

Bosentan improves clinical Outcome of adults with congenital heart disease or mitral valve lesions who undergo CArdiac surgery

To investigate whether an endothelin-1 receptor antagonist improves exercise capacity (peak V*O2) in adults with CHD or with mitral valve lesions who undergo cardiac surgery.

Multicenter, double-blind, placebo-controlled, randomized, prospective study of bosentan as adjunctive therapy to inhaled nitric oxide in the management of persistent pulmonary hypertension of the newborn (PPHN)

To assess the efficacy of bosentan in neonates with persistent pulmonary hypertension of the newborn (PPHN) who are in need of continued inhaled nitric oxide (iNO) after at least 4 hours of continuous iNO treatment and to evaluate the…

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…

Phase 2a, Double-Blind, Placebo-Controlled, 2-Period, 2-Treatment, Crossover Study to Evaluate the Safety, Efficacy and Pharmacokinetics of Multiple Oral Doses of XPF-001 (400 mg bid) in Patients with Inherited Erythromelalgia

• To evaluate the safety and efficacy of multiple doses of XPF-001 (400 mg bid) for relief of pain in patients with IEM.• To evaluate the efficacy of multiple doses of XPF-001 (400 mg bid) for relief of vasomotor signs in patient with IEM.• To…

Randomized controlled trial of mindfulness training as complementary therapy in adults with structural heart disease

Objective of this study is to determine (1) whether mindfulness training has an additional clinical and psychological effect to standard care, and (2) whether offering mindfulness training is a cost-effective intervention, in adult patients with…

Effect of short-term, high protein intake on whole-body protein synthesis and breakdown and stress response in infants after cardiac surgery

Primary: To measure the effect of a high protein diet on whole body protein synthesis and -breakdown, as well as on net whole body protein balance and production of urea in children after cardiac surgerySecondary: To measure the effect of a high…

The Effect of Exercise Training in Adult Patients with a Systemic Right Ventricle; Three Year Follow-Up

The primary objective of the study is to determine whether exercise training exerts a long term effect on maximal exercise capacity, clinical events, sports participation, serum NT-proBNP and quality of life in adults with a systemic right ventricle…

Exercise training in congenital heart disease: is it effective and safe and does it improve quality of life

Objectives:Medical: What is the effect of an exercise training program in children and young adults (up to 20 years of age) who have undergone treatment for ConHD (tetralogy of Fallot or Fontan procedure) on: a) aerobic fitness, b) ventricular size…

Atrioventricular septal defect: longterm follow-up after correction

In patients long-term after AVSD correction the objectives are:1) To evaluate myocardial function using novel echocardiographic techniques.2) To study atrial en ventricular size and function in relation to quantification of AVV function with the use…

Thirty years arterial switch operation for transposition of the great arteries; a follow-up study.

The main objectives are 1) is to evaluate the prevalence of cardiac complications long-term after ASO by investigation of cardiac function as well as clinical outcome and to determine which factors (associated with life style or operative techniques…

Coagulation in Lamin A-C mutations

To establish whether carriers of LMNA mutations have a hypercoagulable state compared to non-affected family members.