Biogen is developing a suite of Digital Outcome Assessments (DOAs), KonectomTM NMD, intended to be used as self-assessment tools to objectively quantify the motor function of individuals with Spinal Muscular Atrophy (SMA) and Amyotrophic Lateral Sclerosis (ALS). Biogen has interacted with health care practitioners to accelerate the development of KonectomTM DOAs in order to measure clinically meaningful functions for people with neuromuscular disorders. In this phase, our goal is to build upon these learnings and understand how individuals with SMA and ALS perceive the impact of disease on their day-to-day lives, and whether the DOAs are capable of measuring this impact.
•To develop SMA and ALS conceptual frameworks for ambulatory and non-ambulatory subgroups and identify functions impacted
•To evaluate individuals’ with SMA and ALS perceived relevance of KonectomTM NMD DOAs to evaluate daily activities impacted by disease.
Nineteen adult participants with SMA type 2 and 3 (59%) and thirteen participants with ALS with leg, arm, and bulbar onset (41%) from across the US were interviewed. For all subgroups interviewed (SMA and ALS, ambulatory and non-ambulatory), the use of upper limbs (hands, fingers), tongue, and head were reported as having greatest impact on daily activities. For both ambulatory individuals with SMA and ALS, the use of lower limbs (legs and feet) were also included as having the greatest impact. All KonectomTM NMD DOAs assessed by the different subgroups were perceived as capturing the relevant functions of their daily activities. These activities include the use of electronic devices for social- and work-related activities, their ability to communicate either orally or by typing, and their ability to walk or transfer, attend to personal hygiene, and cook.
We have developed comprehensive conceptual frameworks in SMA and ALS to design and develop DOAs that have content validity to quantify functional abilities and quality of movement, enabling measurement of functions that are clinically meaningful to people living with the disease and clinicians.