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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…

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.

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…

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…

Psychosocial Distress and Quality of Life in CDKN2A Pathogenic Variant Carriers and their first-degree relatives

To determine 1) the psychological distress and quality of life, and 2) the psychosocial impact of the pathogenic germline CDKN2A variant on lifestyle, genetic testing, skin, and pancreatic surveillance, and family planning in PV carriers and their…

Physiological-based cord clamping for infants with congenital diaphragmatic hernia: a multicentre randomised controlled trial

Primary Objective: To evaluate whether PBCC results in a reduced incidence of pulmonary hypertension in infants with CDH 24hrs after birth.Secondary Objectives: To measure and monitor physiological parameters during transition to provide information…