The overarching objective of the BIOIMAGE-NMD project is to deliver combined structural and molecular imaging biomarkers with proven utility for the detection of therapeutic effects in patients with rare neuromuscular diseases (NMD).
The project will have three specific objectives:
1) To develop a new generation of muscle diffusion Magnetic Resonance Imaging (MRI). This diffusion imaging technology will be used to augment a state of the art simultaneous MRI / Magnetic Resonance Spectroscopic Imaging (MRSI) protocol for quantitative muscle imaging.
2) To provide a proof of principle in Duchenne Muscular Dystrophy (DMD) that simultaneous MRI/MRSI can be used as a biomarker to monitor therapeutic efficacy in clinical trials in neuromuscular diseases.
3) To develop a novel simultaneous Positron Emission Tomography (PET)/MRI technology to advance innovative drug development programmes for personalised medicines based on Antisense Oligonucleotide technology.
One of the promising drugs in development for the potential treatment of Duchenne Muscular Dystrophy is based on Antisense Oligonucleotides (AONs). AON therapy could potentially also be applied to a number of other neuromuscular diseases, such as Myotonic Dystrophy. In DMD, AONs are applied in a technique called exon skipping and this is a genuine example of personalised medicine, where subsets of patients are treated according to their specific mutation. Despite the clear potential for AON technology, the ongoing clinical development of treatments for this type of rare NMD are impeded by 1) the low number of patients available with any given mutation, 2) the lack of objective and reliable outcome measures which span all phases of the disease, and 3) the current need to use invasive muscle biopsies to monitor therapeutic response.
In recent years it has been suggested that the development of imaging biomarkers for clinical trials should be an integral part of the drug development pathway, such that imaging methods proven to determine whether a drug is reaching the desired tissue and having the expected therapeutic impact in vivo, are developed in parallel with the drug itself. The BIOIMAGE-NMD project directly addresses this approach and will provide new tools to assess treatments in early clinical trials of the AON therapeutics.