Imaging Muscle Performance in Action to guide Therapy
Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant deaths. Recently, a milestone has been reached with FDA/EMA approval of the first medicine to treat SMA (Spinraza or Nusinersen). Sensitive therapy outcome measures are urgently needed for early detection of treatment response in SMA. The brand new ultra-high-field MRI-scanner for metabolic, anatomical and physiological imaging in Utrecht is uniquely suited for this. The collaboration between Stichting Spieren voor Spieren, the University Medical Center Utrecht, the University Medical Center Groningen and MR Mechanics provides a unique combination of international experts in the field of SMA, exercise physiology and Magnetic Resonance scanning.
Clinical trials have shown a positive effect of Spinraza in about 50% of baby’s with the most severe type of SMA (type 1) and in children with SMA type 2. It is at present unknown what the treatment effect will be in patients older than 12 years. As such, it has yet to be determined which patients will benefit from this highly expensive drug (up to 375k$ per year). To effectively treat patients and reduce the healthcare costs, sensitive therapy outcome measures are urgently needed.
The brand new ultra-high-field MRI scanner for metabolic, anatomical and physiological (MAP) imaging of the human body in Utrecht is uniquely suited for this. MAP MRI scanning can visualise dynamic processes of muscle metabolism and physiology that are affected immediately (or early) after the start of treatments. With SMA, every improvement will lead to so-called metabolic activity. This can be detected directly in the muscles with the MAP MRI scan.
In this project, the consortium partners set out to develop, implement and test IMPACT: innovative MAP MRI scanning of muscle performance in action for early detection of treatment response in SMA.