A group of some of the world’s most eminent neuromuscular experts have published the findings of INCEPTUS – the three year natural history study of young boys with x-linked myotubular myopathy. Disease related events, respiratory and motor function, feeding, secretions and quality of life were regularly assessed over a period of 1 to 3 years.
The study found that, of the participants:
– 80% used a ventilator for more than 16 hours per day
– 95% had a tracheostomy
– 97% had a gastrostomy
Motor assessments were video recorded for standardised assessment and ventilator dependence was reported by parents.
The study expanded on previous natural history studies and its purpose was to get a clear picture of the impact of x-linked myotubular myopathy for those who require ventilatory support,
Our community is indebted to the 34 boys, and their families, who took part in this study which required multiple hospital assessments and many tests.
Read the publication here – hyperlinked to https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd210781
