The BIND (Brain Involvement iN Dystrophinopathies) project is the first project of this scale to improve characterisation of brain involvement in Duchenne and Becker Muscular Dystrophy (DMD and BMD respectively), a previously overlooked field. Launched this January, this EU-funded project connecting 19 partners aims to address a crucial aspect of DMD and BMD that was already recognised in 1861, when Duchenne de Boulogne first described the neuromuscular condition. In the last few decades however, most of the efforts have focused on improving outcomes related to muscle weakness, whilst brain involvement has received less attention. 

One of the first things that is needed is raising awareness about the high prevalence and serious impact of brain involvement in DMD/BMD. About half of the DMD/BMD patients suffer from brain involvement. Secondly, we need to raise awareness about treatment options already available, but not offered today.

Duchenne and the Brain livestream

During World Duchenne Awareness Day, the BIND consortium was taking a first step in raising awareness around the globe for this subject. Experts from the BIND consortium played an important role in the live stream ‘Duchenne and the Brain’ discussing the need for awareness on this specific topic, the need for more research and early screening in order to improve the lives of the people with DMD and BMD who struggle with brain involvement.

Also, without obvious cognitive impairment or behavioural issues they still may have learning difficulties and need the appropriate support for this. Four experts from the BIND consortium were participating: Prof. Muntoni, Prof. Mercuri, Dr. Hendriksen, Dr. Doorenweerd as well as Elizabeth Vroom, chair of the World Duchenne Organization, a partner in BIND. Next to the BIND partners, 2 parents François Lamy, and Martha Stein Carotta Henriques joined the online livestream, as well as Kathi Kinnett, clinical care advisor for PPMD.

During this online programme, experts, clinicians, families and teachers gathered more insight in the types of cognitive and behavioural comorbidities seen in DMD/BMD, MRI results of the brain, the struggle of the boys and their families and the need for implementation of existing Standards of Care. The recording of this livestream can be found below.

Implications for clinical care and translational research

Thanks to the European NeuroMuscular Centre, last November a workshop on the role of brain dystrophin in muscular dystrophy; Implications for clinical care and translational research took place. The ENMC kindly gave the World Duchenne Organization permission to publish the lay report of this meeting on the WDAD website.