Background:
Myotonic dystrophy type 1 (DM1) is among the most variable human genetic diseases with wide range of age of onset and multi-organ involvement. While the adult DM1 phenotype has been well described, pediatric data remain limited due to small studies and a focus on narrow phenotypic features. Engaging pediatric patients with DM1 to participate in natural history studies at research centers is challenging, given mobility issues, systemic symptoms, and affected caregivers. Remote assessments could mitigate these barriers and enhance research participation
Objectives: To assess the feasibility and reliability of remote assessments of strength, function, and multi-systemic disease manifestations in children with congenital and childhood-onset DM1.
Methods: Study toolkits with necessary equipment were mailed to participants. Remote study visits consisted of a structured interview followed by various motor, cognitive/psychosocial, and other multi-systemic assessments. All subjects could volunteer to participate in a repeat remote study visit. Feasibility was defined as >80% completion of remote visits. Agreement between measurements will be analyzed using intraclass correlation coefficients and Bland-Altman plots.
Results: Nineteen participants (11 congenital, 8 childhood-onset DM1) have enrolled thus far. Eighteen completed initial remote study visits, and 13 completed repeat remote study visits. The ability to complete specific assessments depended on age and disease severity. Results of the first preliminary data analysis will be presented.
Conclusions: Performing remote assessments of pediatric patients with DM1 is feasible, as shown by successfully establishing a workflow of obtaining remote consent, shipping toolkits containing all necessary equipment for a remote study visit, and conducting the remote study visit itself. However, the feasibility and reliability of performing specific assessments remotely may depend on disease severity and caregiver support.