12 results
Study i)Select the most valid and feasible accelerometer for measuring habitual physical activity in children with a mitochondrial disorderStudy ii)Measure the test-retest reliability of this instrument
The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…
1. To include the patients* point of view in the characterization and description of the mucopolysaccharidoses; and to compare between the different types of mucopolysaccharidoses.2. To assess *health damage* at the moment of diagnosis, in order to…
Primary Objective: *Which outcome measure should we use to measure disease severity and disease progression in this specific group?*To test the feasibility (% of patients who were able to complete the test) of the selected outcome measures.To test…
A Cross-sectional Study of Renal Function in Treatment-naïve, Young Male Patients with Fabry Disease
The objectives of this study are (1) to document renal function and other Fabry disease manifestations across age in treatment-naïve, young male patients with Fabry disease; and (2) to provide a reference group for comparison with interventional…
In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…
Using a nighttime sleep recorder, we want to answer the following questions:1. description of sleep quality (duration, efficiency and structure of various stages of sleep)2. quantification of specific sleep disturbances (RLS, OSAS and periodic limb…
To survey the clinical and biochemical characteristics of individuals diagnosed with OCTN2, CPT2, CACT or BKT deficiency or suspected with OCTN2 deficiency after NBS in the Netherlands to aid the decision on whether or not to include these disorders…
The aim of the Survey is to better understand the variability and progression of Pompe disease and to continue to monitor and evaluate the long-term effects of available treatment options and support measures including ERT with alglucosidase alpha…
The primary objective is to test the feasibility of EGP quantification in adult GSDIa patients by stable isotopes after a single oral D-[6,6-2H2]glucose dose. Secondary objectives are to compare EGP assessed by a single oral D-[6,6-2H2]glucose dose…
Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…
Primary Objective:Determine the relevance, feasibility, reliability (test-retest, inter- and intra-rater) and validity of a selected set of outcome measures in children with mitochondrial encephalopathy. Secondary Objective: Determine in- and…