28 results
The primary objective is to determine if physical fatigability is present in infantile and young adult patients with FSHD.The secondary objectives are to determine if there is an association between fatigability ando Disease severityo Muscle…
Clinical, biochemical and radiological characterization of Van Buchem Disease
A study of the in-vitro thermal stability of the ryanodine receptor-1 in patients with RYR1 variants
The primary objective is to investigate the effect of a variant in RYR1 on the thermal stability of RyR-1. The secondary objective of the study is to investigate whether there is difference in clinical characteristics between patients with a…
The goal of this study is to perform an additional follow-up visit on the FSHD-FOCUS cohort one year after the five year follow-up visit to assess the responsiveness over one and a half year, a reasonable timeframe for a clinical trial, of highly…
We want to investigate whether blood levels of vitamin K are lower in children with O.I. compared to children without O.I.
Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial preparedness for FSHD research.
To determine the contribution of musculoskeletal pain to activity limitations corrected for the impact biomechanical factors (joint biomechanics, proprioception, physical fitness) and psychological comorbidity. The secondary objective is to identify…
The aim of this study is to evaluate the added benefit of integrating genetic information and state-of-the-art phenotypic information (clinical measurements) of the musculoskeletal system in groups of patients with conditions presenting with or at…