We are currently developing four clinical trials that play a key role in furthering the knowledge of neuromuscular disease and developing new therapies. We usually provide information on these studies to families and patient associations, with whom we keep in close contact. When possible, we also offer them the opportunity to take part in clinical trials.
The members of the Neuromuscular Diseases Unit at SJD Barcelona Children’s Hospital are involved in several research projects, including the following:
- Congenital muscular dystrophy: Duchenne muscular dystrophy and congenital muscular dystrophies.
- Diseases related to nuclear mitochondrial myopathies.
- We have discovered a new function of collagen VI in the regulation of glucose metabolism in muscle and fat cells, in collaboration with the University of Barcelona and CIBERDEM. This discovery is the basis of a patent application.
We also work to facilitate research in this field through the collection of tissues and cells, collaboration with other centres and training for technical and research staff. The Unit works in coordination with other national and international networks and projects, including:
- TREAT-NMD European network
- Centre for Biomedical Network Research on Rare Diseases (CIBERER)
- Dubowitz Neuromuscular Centre (Centre for Neuromuscular Diseases)
- Exon Skipping network, COST Action programme
- New biomarker research project with BIO-NMD