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A Multicenter, Multinational, Longitudinal Clinical Assessment Study of Subjects with Mucopolysaccharidosis IVA (Morquio Syndrome).

The objective of the study is to quantify endurance and respiratory function in subjects with MPS IV A and to better characterize the spectrum of symptoms and biochemical abnormalities in MPS IV A disease over time.

Abnormal number of fetal ribs or vertebrae and associated congenital abnormalities and adverse fetal outcome; The need for prenatal detection of rib and vertebral abnormalities by 2D&3D-ultrasound.

The primary objective is to determine if there is an association between the presence of vertebral and/or rib anomalies and congenital malformations, aneuploidy or adverse fetal outcome, in order to assess whether detailed evaluation of the…

Epigenetic biomarkers to predict psoriasis disease progression * towards tailored therapy.

Primary Objective: To define a top set of genes that most reliably (r >=0.95) distinguish psoriasis from normal skin. We will define this set from differential methylation genes to indicate potential biomarkers.Secondary Objective(s):…

Gene expression during ciliagenesis: Towards a novel candidate gene list for Primary Ciliary Dyskinesia

We aim to assess gene expression patterns in cilia-producing cells from healthy controls to develop a candidate gene list for PCD.

CoDeLaGe
A translational cohort study on self-injurious behaviour in people with Cornelia de Lange Syndrome

PrimaryEffective treatment regimes and preventive tools of SIB in CdLS by studying phenomenology, etiology and pathogenesis.Secondary a. Development of a flow chart for daily care (diagnostics; management) b. Evaluation whether the present study can…

Fatigability in Spinal Muscular Atrophy

To determine the reproducibility and validity of specific outcome measures for skeletal and respiratory fatigability in subjects with SMA.

The Relationship between Atrial SEptal Defects (ASD) And BRonChial Hyperresponsiveness (SEARCH); Towards understanding the mechanism of dyspnea in adult ASD patients.

The aim of this study is to investigate the relationship between atrial septal defects and airway responsiveness before and after percutaneous closure.

Generation of induced pluripotent stem cells from patients with genetic neurodevelopmental disorders to study disease mechanisms

Here we will generate iPS cells from patients with genetic neurodevelopmental disorders and (related) healthy control individuals, that can be used to generate in vitro disease models to further study the mechanisms behind these disorders.

Discordant Monozygotic Twinning in Beckwith-Wiedemann Syndrome:
A Study of Embryonic Pluripotency and Epigenetic Reprogramming

Investigating the molecular and phenotypic differences of iPSCs established from skin fibroblasts of discordant MZ BWS twin pairs.

Biomarker activity and chronic heart failure in adult patients with congenital heart disease.

The aim of this project is to evaluate the clinical value of biomarkers in adult patients with congenital heart disease, in particular:1) quantify biomarkers of neurohormonal activity as NTproBNP, endotheline-1 and of immunological activity as CRP,…

Semen analysis in males with IGSF1 deficiency syndrome

Primary objective: 1) To examine the effect of IGSF1 deficiency syndrome on semen quality when compared to WHO reference ranges;2) The comparison of semen quality of these patients to that of healthy controls.To investigate the association between…

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…

Measuring TMPRSS6 expression to clarify genetic diagnosis in IRIDA

(Primary) Determine whether measuring the expression level is a good functional test for confirming the genetic diagnosis in IRIDA by establishing the relation between the TMPRSS6 mRNA expression and the phenotype in IRIDA patients and their family…

Aortic root changes after percutaneous atrial septal defect closure; Insights towards understanding the mechanism and predictors of device erosion and aortic valve dysfunction.

The primary objective is to investigate the determinants of aortic root deformation occurring >= 3 months after successful ASO implantation in adult patients with an atrial septal defect.

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…

The bilious bowel: the relation between bile and bowel in development of biliary atresia and liver fibrosis. An explorative study

To investigate the origin of BA we will assess which TLR(s) is/are activated. To test the hypothesis that during development of BA and associated liver fibrosis there is a *leaky gut* and/or a change in microbiome we will use human material to…

Phenotyping and genotyping of retinal dystrophies in the Netherlands.

The goal of this study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The study cohort will be used to identify the genetic causes underlying these diseases, and to…

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…

Molecular studies on reduced ovarian reserve and embryo competence in BRCA1/2 mutation carriers

Investigate the association between BRCA1/2-mutations, DNA damage, apoptosis and oocyte/embryo quality in immature germinal vesicle (GV) bearing oocytes, immature metaphase 1 (MI) and unfertilized mature metaphase 2 (MII) oocytes and affected early-…

Genetics of Hirschsprung's disease

Idenification of new Hirschsprung's disease associated genes.