#apaperaday: 274th ENMC international workshop: recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024
In today’s #apaperaday, Prof. Aartsma-Rus reads and comments on the paper titled: 274th ENMC international workshop: recommendations for optimizing bone strength in neuromuscular disorders. Hoofddorp, The Netherlands, 19-21 January 2024
Today a report from the 274th ENMC workshop, this one on optimizing bone strength in neuromuscular disorders by Voermans, @drjarodwong et al. Meeting took place in January and already the report is published. DOI: 10.1016/j.nmd.2024.07.009
The paper is published in @WorldMuscleSoc journal Neuromuscular Disorders, as are all @_ENMC meeting reports. As usual with meeting reports, this one is very content dense. I won’t be able to summarize everything, but refer to the publication for details.
The workshop involved patient representatives and experts in neuromuscular diseases (NMDs) and bone health. Patients with NMDs often are at risks for fractures, due to poor bone health. This is because of less activity and loading due to the disease and sometimes poor nutrition.
For Duchenne, also chronic steroid use further impairs bone health. The meeting aimed to identify gaps in bone health in NMD research, the identification of risk factors, optimizing screening and defining what constitutes of optimal management.
Surveys were done with patients and clinicians. The patient survey revealed 30% of respondents experienced fractures after a fall in the past 5 years, which often had implications for mobility (nb not only leg fractures, but arm fractures prohibit use of e.g. a walking stick).
The survey with clinicians revealed that most were aware of the risks of poor bone health in NMD patients, but the knowledge on bone health itself were poor to moderate. Bone is continuously reformed, with absorption and bone formation. During childhood bone density increases.
with reduced mobility and weight loading, this happens less. Furthermore, with decreased nutrition (when muscle weakness prevents food intake), also there is less bone density increase. Finally, with chronic steroid use, there is more absorption and delayed puberty.
Bone density increases a lot during puberty normally so delayed puberty is yet another risk factor. The meeting revealed that we know most about bone health in Duchenne (but still relatively little). Other NMDs were discussed as well (Pompe, SMA, congenial muscular dystrophy).
Bone health is often measured by DXA scan. However, for patients with contractures, or who are nonambulant this is challenging. Exercise can help improve bone health, but needs to be customized to the individual (what can they do? but also, which type of exercise is not damaging)
Preventing fractures is important as fractures often lead to permanent loss of function or mobility, even aside from the quality of life loss and the pain. Bisphosphonates and vitamin D are common treatments to improve bone health.
Data on long term treatment with vamorolone was presented as well. Vamorolone in the short term did not impact bone health, while prednisone does. The longer term data (30 months) showed less fractures compared to steroid treated natural history cohorts.
However, it was pointed out the vamorolone will still lead to delayed puberty, so that aspect of poor bone health is not addressed. Only the improved balance of absorption/formation. Authors concluded that work is needed and aligned a research and management plan
As said, there is a LOT more in the report and those working in bone health or those who clinically manage NMD patients should have a read. The report is well written and kudos to the authors for getting it printed in record time!
