13 results
•To characterize the natural history and progression of DMD to help inform the design of future studies•To capture biomarkers of safety and disease progression•To provide comparative data for the development of rare exons for which formal controlled…
To perform 31P-MRS during and after exercise using a specifically designed probe to determine variations in energy metabolism along the TA muscle in healthy humans subjects.
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…
The main objective of our research is to develop an FCE for use in one-handed individuals. The main objective of this part of the study is to gain descriptive data on muscle tension of the back, neck and shoulder, joint movements of the shoulder,…
The aim of this study is to explore the value and added value of a wrist unit that can be put in a flexion position (Flex-wrist, Otto Bock ®) and a wrist unit that can not only be put in a flexion position but can also move freely in a neutral…
Primary Objective: to investigate whether the variation of the number of lumbar vertebrae in humans is coded by the same genes which are responsible for this as well as in other mammals.
To investigate if difference in fiber type and/or oxygen supply are the underlying cause for the difference in PCr recovery along the length of the tibialis anterior muscle.
The primary aim of this study is to document with quantified measurements the natural history of Duchenne Muscular Dystrophy. Several validated tools will be used to describe motor, orthopedic and respiratory functions, and quality of life along a 6…
Primary objectives* To correlate social, physical, and biometric activity of FSHD patients with the FSHD Clinical Score (Lamperti) and the Timed Up-and-Go Test.* To evaluate the feasibility and subjective burden of remote monitoring in FSHD patients…
The primary objective of the second part of the study, which is the focus of this application, is to perform a comparative analysis of the cognitive profile and MRI outcomes of DMD/BMD patients.
Primary objective* To determine the extent to which muscle strength is affected in patients with RYR1-RM with autosomal dominantmutations and describe measurements over time.Secondary objectives* To determine the extent to which fatigue and physical…
1. Compare molecular signatures in six leg muscles using RNA-sequencing;2. Correlate these signatures to the muscle involvement pattern in three muscular dystrophies and identify regulators for muscle strength preservation
The primary goal is to hasten drug development in FSHD by evaluating the usefulness of various outcome measures, validating new clinical outcome measures, and to elucidate cohort characteristics useful for determining eligibility criteria to improve…