1017 results
To discover human genes which are likely to confer susceptibility for recurrent respiratory papillomatosis
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.
• Compare bone density between patients with mild haemophilic and those with severe haemophilia*.• Compare the relationship between treatment regimen: prophylactic (high-dose vs. intermediate dose) and on-demand and bone density.• Examine the…
Our primary aim is to develop en perfection the diagnostic accuracy of the non-invasive tests for chromosomal aberrations in maternal blood.
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…
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):…
We aim to assess gene expression patterns in cilia-producing cells from healthy controls to develop a candidate gene list for PCD.
The specific objectives are:1. What is the difference of in vitro CFTR function in CF patients with either mild (compound heterozygote A455E) mutations or severe (homozygote F508del) mutations with mild or severe clinical disease? 2. What is the…
To determine the appropriateness of scale content of the preliminary CLEFT-Q scales by age and culture and to identify unclear or ambiguous items, instructions and response options
To develop and examine the test-retest reliability of a wheelchair skills test for children
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…
The overall aim of the study is to improve diagnostic and therapeutic options for people with CF, especially in the context of young children and novel CFTR-targeting drugs. Primary Objective: 1. to demonstrate relations between CFTR genotype,…
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.
Primary objective: - 50% seizure reduction or more at 3 months of dietary treatment .Secondary objectives: -level of ketosis on KD and MAD.-number of patients maintaining >50% seizure reduction on MAD.-number of withdrawals (not able to…
To evaluate the safety and tolerability of IV administration of SBC-103 in subjects with MPS lllB, Sanfilippo B.
Primary Objectives*To evaluate the safety and tolerability of multiple oral doses of GLPG1837 in subjects with CF and at least one copy of the S1251N mutation.Secondary Objectives*To assess changes in sweat chloride from baseline (Day 1) as the…
Patients with chronic respiratory failure currently start their ventilatory support in hospital as stated in national guideline. However, as these patients are severely disabled, a stay at the hospital for several days is experienced by many as very…
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…
Monitoring and evaluation of the Dutch guideline for treatment of aHUS in children and adults during two years.
Primary Objective: The primary objective of this study is to evaluate safety and tolerability of pridopidine in patients with HD.Secondary Objectives: The secondary objectives of the study are to assess the effects of long-term, open-label dosing…