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View article: The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study Open
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease without an available cure. The first trials with potentially disease-modifying therapies have started, including a phase ll open-label study and a pha…
View article: The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders
The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders Open
The design of a clinical trial for a rare disease can be challenging. An optimal study design is required to effectively study the clinical outcomes for possible therapies for these types of disorders. Understanding the study participants'…
View article: Respiratory features of centronuclear myopathy in the Netherlands
Respiratory features of centronuclear myopathy in the Netherlands Open
Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular…