71 results
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.
In this project we use skeletal muscle biopsy tissue from DM1 patients and controls to isolate pericytes. These muscle-derived mesodermal cells can be genetically corrected by the novel powerful CRISPR-Cas9 technique, which will remove the disease…
To evaluate the ability of ataluren to improve pulmonary function relative to placeboTo determine the effect of ataluren on:1. Pulmonary symptoms2. General well-being3. Health-related Quality Life (HRQL)
Primary: The primary objective of the randomized treatment epoch and for the overall study is to demonstrate that subcutaneous canakinumab administered every 4 weeks is superior to placebo in achieving a clinically meaningful reduction of disease…
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…
This current study aims to investigate the use of Curios bèta-TCP, a synthetic tricalcium phosphate for repair of the alveolar cleft in patients with clefts of lip, alveolus and palate.The specific properties of Progentix TCP result in optimal and…
Primary: To compare the reduction in frequency of partial-onset seizures on each of two trough ranges of everolimus (3-7 ng/mL and 9-15 ng/mL) versus placebo in patients with TSC who are taking one to three AEDs. Key secondary: Ability to completely…
The aim of this study is to investigate the long-term outcomes in patients with BWS that have been surgically treated at our institution with the help of simple, non-invasive, objective study tools. We hope to gain valuable information regarding the…
To determine safety and efficacy of oocyte vitrification.
To evaluate the efficacy of TESE and to describe the risks of the TESE procedure for the men with a four year follow-up of their offspring.
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…
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…
To determine safety of oocyte vitrification.
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
Objective: permanent improvement of the symmetry of the external nose in patients with unilateral cleft
To identify high risk groups who are in need for more and specific help and guidance, and to offer appropriate counselling.
Part A:To evaluate the safety and tolerability of increasing doses of VX-770 up to 450 mg (q12h) in healthy male subjects.Part B:To determine if therapeutic or supratherapeutic systemic exposure to multiple doses of VX 770 prolongs the mean…
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…
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 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…