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Assessment and pharmacological correction of abnormalities in chloride (Cl-), bicarbonate (HCO3-) and mucus transport in rectal biopsies of CF patients

We aim to fill up the present gap in knowledge about HCO3- and mucus transport in native human intestine, and about possible effects of pharmacological correctors on these parameters in CF, by detailed electrophysiological and biochemical ex vivo…

Optical coherence tomography in non-syndromic craniosynostosis patients

The primary objective is to obtain OCT data for children aged 4 to 10 diagnosed with non-syndromic craniosynostosis and to compare these to the normal reference values.

Mesalamine for Colorectal Cancer Prevention Program in Lynch syndrome

Primairy Objective* To test whether 5-ASA reduces the occurrence of colonic benign or malignant neoplasia compared to placebo in Lynch syndrome (LS) patients as detected by any colonoscopy until the end of study.Secondary Objectives* To test wheter…

Non- invasive prenatal diagnosis using cell-free fetal DNA (cffDNA) in maternal plasma

Developing a non-invasive test for detection of trisomy 21,13 orr 18 in the unborn fetusDeveloping a standardised protocol, inclusive quality criteria for the use of massive parallel sequencing of celfree fetal DNA in maternal plasmaOptimalising…

Improving risk assessment in consanguineous couples by means of SNP analysis

The objective of this research is to develop a method which can identify among all consanguineous couples the ones which are at high risk.

Evaluation of the oral uracil loading test as a sensitive, simple and cheap method to detect DPD deficiency.

The primary objective of this study is to establish the sensitivity and specificity of an oral uracil loading test as a potential screening tool for DPD deficiency

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…

Posttraumatic Stress Disorder and Posttraumatic Stress Symptoms in Parents Two Years after the Diagnosis of Expecting a Child with Major Congenital Anatomical Anomalies: a prospective design regarding prevalence, course and determinants

To identify high risk groups who are in need for more and specific help and guidance, and to offer appropriate counselling.

Neurocognitive functioning in school-aged cystinosis patients: general effects of chronic disease or specific deficits?

The aim of the study is to improve the quality of life of cystinosis patients. Part of it forms neuropsychological screening in order to identify specific defects in the neurocognitive development and learning abilities. The results will contribute…

Evaluation of sexual function in adult patients with congenital anatomical anomalies of lower gastro-intestinal tract or pelvic region.

The primary aim is to evaluate sexual function in adults with congenital colorectal disease and sacrococcygeal teratoma. The secondary aim of this study is to evaluate whether additional information and care on this subject has been missed and would…

Study of phenotype in Silver-Russell syndrome patients with known molecular abnormalities

Inventarisation of the different physical characteristics of SRS at different ages. In this way, differences in phenotype between the 2 diferent causes of SRS will become apparent. Also, with this knowledge, more rpecise and elaborate information…

Whole genome sequencing of children born after fertilization with ICSI using testicular sperm

In this pilot study we intent to evaluate whether children born from TESE-ICSI treatment are at risk for increased de novo (pathological) mutations. This research is novel and pioneering, and never published before. We expect the outcome to be…

Research on the validation and acceptance of Non-Invasive Prenatal Diagnosis (NIPD) as a safe and reliable alternative for invasive prenatal testing for monogenic disorders.

Objective: In this project we, as a collaborative network of Netherlands academic hospitals from Utrecht, Amsterdam, Rotterdam, Leiden and Groningen, propose to further optimize and validate MG-NIPD at early stages (week 8-10) of pregnancy, in order…

The effect of acquired brain dysfunction on visuomotor integration in neonatal critically ill children

Do neonatal critically ill children aged 9-16 years have problems with visuomotor integration? If yes, which aspects of the visuomotor integration are affected and require a possible intervention?

Black bone MRI in unisutural craniosynostosis patients.

Primary Objective: To validate the predictive value of MRI data for neurocognitive deficits and visual functioning by relating these data from newborns with unisutural craniosynostosis to the psychological and ophthalmologic test results, taken…

Compromised airway in children with congenital mandibular hypoplasia

Primary Objective: 1: To determine the severity of respiratory problems, treatment modalities and outcome in the first year of life. Secondary Objectives:2a: To evaluate the course of respiratory problems and quality of life on long term follow-up.…

Pancreatic cancer surveillance in CDKN2A and other high risk mutation carriers

The primary objective is to study if PC surveillance in individuals with a CDKN2A or other high risk mutations leads to an increase of 5-year survival rate, as compared to PC in the general population. Secondary objectives are: (1) to study long-…

An Open-label Study to Evaluate the Long-term Safety and Efficacy of CSL312 (Garadacimab) in the Prophylactic Treatment of Hereditary Angioedema

This study has been transitioned to CTIS with ID 2024-510777-18-00 check the CTIS register for the current data. The primary objective of the study is to evaluate the long-term safety of SC administration of CSL312 in the prophylactic treatment of…

Improving the understanding of the anatomy and lymph flow in the central lymphatic system in patients with Noonan Syndrome Spectrum Disorder

To get a better insight into the central conducting lymphatic system in adult volunteers with Noonan Syndrome (NS) without clinical symptoms or signs of lymphatic disease compared to NS and CardioFacioCutaan syndrome patients with severe lymphatic…

An exploratory, open label, multiple dose, multicentre phase I/II trial evaluating safety and efficacy of prenatal and/or postnatal infusion of allogenic expanded fetal mesenchymal stem cells for the treatment of severe Osteogenesis Imperfecta compared with historical and untreated prospective controls.;In the Netherlands patients will not be treated. Retrospective and prospective control patients will be included

This study has been transitioned to CTIS with ID 2023-504593-38-00 check the CTIS register for the current data. The aim of this trial is to infuse multiple doses of human 1st trimester liver-derived MSC for the treatment of severe OI to determine…