Region Hovedstaden (RegionH)

Region Hovedstaden is a non-academic, non-profit public body with 40,000 full time employees, of which 4,700 are employed in R&D. The main type of R&D activity lies within the life sciences. RegionH’s annual turnover amounts to 5 bn EUR. RegionH comprises ceveral centers and hospitals, one of them is Rigshospitalet. Copenhagen Neuromuscular Center (CNMC) at Rigshospitalet is a large neuromuscular center with 39 full-time employees, devoted to neuromuscular work in the clinical and research field. Our site is a national referral center for inherited muscle diseases, and we therefore have large cohorts of adult Duchenne and Becker muscular dystrophy patients relevant for this proposal. One of our key competences is performing MRI investigations in these patient groups, which is of relevance for the proposal. Specifically, we have published several papers in recent years on functional brain MRI and neurovascular responses in patients with Becker muscular dystrophy. We are also currently investigating similar brain involvement in patients with similar muscular dystrophies as the dystrophinopathies, namely the alpha-dystroglycanopathies. Although we also work intensely at the translational level and work with multiple animal models of muscular dystrophies, including the mdx mouse, we have agreed with the other partners that we focus on the patients, in whom we can contribute the most. All facilities to perform the planned studies are fully in place, including MR-scanners and software, as well as staff to operate them. We have not named a person who will be chief responsible for imaging, but it will be the post-doc that we apply for in the budget, and we have numerous qualified candidates for this. Likewise, our department of neurology has multiple neuropsychologists who can be involved in the behavioural studies. Several are highly qualified, but the person has not been designated yet, and is therefore not mentioned in the personnel description below.

UCL

Team

Professor, director John Vissing, MD, DMSci

Position in Organisation
Head of CNMC

Profile
John Vissing is professor of Neurology at the University of Copenhagen, Denmark, and the Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen. He obtained his MD in 1986. Following graduation from medical school, he was a research fellow at University of Copenhagen and UT, Southwestern Medical Center in Dallas, USA. His research focuses on hereditary muscle diseases. Main research interests are new disease discovery, myasthenia gravis, rehabilitation of muscle disease, treatment and pathophysiology of metabolic myopathies, MR imaging of muscle, defining outcome measures for natural history and trials, developing murine models of muscle disease, aging muscle, and unraveling genotype-phenotype relations in muscle disease. JV has authored more than 330 scientific publications (296 on PubMed) and has a H-index of 51.

Role in the project
JV will be the responsible contact person for the project and will recruit patients to the study and be responsible for setting the entire team together and oversee, supervise and facilitate the practical implication of the study activities. He will also participate in project meetings, locally and with the entire BIND-team.

Consultant, PhD, Nanna Witting, MD

Position in Organisation
Consultant

Profile
Nanna Witting is a consultant and senior researcher at the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen. She obtained her MD in 1994. Following graduation from medical school she made her PhD in the cerebral consequences of neuropathic pain using functional imaging (activation PET). After neurology training, she passed the clinical diploma exam at Queen Square Hospital of Neurology, London with distinction. She returned to Denmark to focus on research in muscle disease that has been the main target of her research for the last 13 years. Most research projects have focused on the clinical aspects of muscle disease, including description of phenotypes, genetic characterization and development of treatment. Among these projects she was primary investigator in a self-initiated pharmaceutical trial in adults with Becker muscular dystrophy in which the effect of Sildenafil on skeletal muscle as well as cerebral cognitive and vascular function was evaluated.

Role in the project
NW will recruit patients to the study and facilitate the practical implication of the study activities and take part in MR-scanning and clinical assessment of patients.