A new project called BIND — Brain Involvement iN Dystrophinopathies — seeks to better characterize how the brain is affected in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), and to find potential ways to treat neurological complications in people with those disorders.
The European Union awarded a grant of more than £5.5 million (more than $7 million) to support this four-year project.
Altered levels of functional dystrophin protein is key in both Duchenne and Becker. Dystrophin is absent or produced in very limited amounts in those with DMD, and is only partly functional in people with the milder BMD.
Not having a normal amount of dystrophin results in muscle weakness and atrophy (shrinkage). Understanding the effects of too little dystrophin in muscles — and how to address that therapeutically — has been the goal for nearly all research into these conditions. With that, complications in the central nervous system (brain and spinal cord), which is common in people with muscular dystrophy, have received far less attention.
“We were so occupied studying muscles, we almost forgot to focus on dystrophin in the brain,” Francesco Muntoni, MD, a pediatric neurologist at Great Ormond Street Hospital for Children and BIND’s leader, said in a press release. “With this project, we hope to better understand involvement of the brain, and enhance the quality of life of those affected by Duchenne and Becker.”
BIND has four overarching goals. The first is to better understand which specific forms of dystrophin are produced in the brain, and to gain insight into their function.
The second, using pre-clinical models, is to see whether dystrophin production can be activated in the brain of people with these dystrophies and to determine the effects of such activation. In theory, positive results from these experiments could pave the way for novel therapeutics for BMD and DMD that are specifically aimed at the brain.
The third and fourth goals of the BIND project are to define the spectrum of brain-related comorbidities seen in affected individuals, and to create measurement tools to assess these complications. This will include, for example, determining the extent to which people with BMD or DMD are affected by attention deficit disorder or autism.
The project will be conducted in collaboration with the World Duchenne Organization. “While there has been a lot of focus on the physical changes in DMD and BMD, treatment of neuropsychological problems is still lacking much-needed attention. It’s very promising that this project addresses dystrophin in the brain,” Elizabeth Vroom, chairwoman of the WDO, said in another press release.
A kick-off meeting for the project was held in London in January, bringing together 50 researchers from eight countries in Europe and Japan. This included experts in various fields, such as clinical research and molecular biology, who will contribute to various aspects of the project.