Work Package 5: Deep functional phenotyping of Duchenne muscular dystrophy and Becker muscular dystrophy patients

Led by Eugenio Mercuri (UCSC) and Jos Hendriksen (KEMP)

In the BIND Work Package 5, the focus on patient recruitment, data collection, and preliminary outcomes has shown significant progress and promising insights. 

Recruitment Update: First of all, thank you very much to all participating families. For the online questionnaires, we’ve enrolled 274 individuals with DMD and 74 with BMD. In the second part, the neuropsychological assessment, we included 251 DMD and 61 BMD participants. To ensure comprehensive data, patient inclusion continues until December 2023. 

Data Collection Milestones: Our commitment to robust data collection has been a cornerstone this year. Extensive questionnaires and neuropsychological examinations, standardized across sites, have resulted in a lot of data, as reflected in our recruitment figures. A recent meeting in Leiden streamlined data interpretation. All sites have inputted data into programmed Excel and SPSS files. 

Preliminary Outcomes: Initial analyses have unveiled promising findings supporting the current literature. Boys lacking Dp140 expression demonstrate heightened cognitive and behavioural issues compared to those expressing Dp140. Further analyses are required to specify the particular areas of cognition that are most commonly affected and to gain a better insight into the main risk factors for the emergence of cognitive and behavioural problems. Furthermore, part 1 data were analysed to develop a BIND screening tool, utilizing the best-performing items from the questionnaires to create an easily implementable screener to identify red flags and additional care needs. Moreover, with this short questionnaire, we aim to gather data on brain-related comorbidities in over ten different languages and countries. 

We’re excited about the progress made so far and look forward to gaining deeper insights as our analyses go on.