OBJECTIVES: Amyotrophic lateral sclerosis (ALS) is a rare, incurable neurodegenerative disease characterized by motor neuron loss resulting in weakness, disability, and eventually death. This study aimed to conduct qualitative interviews with people living with ALS exploring the signs, symptoms and impacts of ALS and refine a conceptual model (CM) for ALS.

METHODS: This study was a cross-sectional, non-interventional, qualitative study comprising of concept elicitation interviews with adult participants with a clinical diagnosis of ALS. Interviews were conducted by trained interviewers using a semi-structured interview guide. Interview transcripts were analyzed by directed content methods using ATLAS.ti software by trained researchers. Data collection and analysis was completed when data saturation was achieved.

RESULTS: Fifteen adult participants were interviewed. Twenty-two signs/symptoms were reported by participants, mostly spontaneously. Most frequently reported signs/symptoms of ALS were physical weakness (n=12/15, 80.0%), changes to speech/difficulty speaking/talking (n=11, 73.3%), respiratory/breathing issues (n=7/15, 46.7%), fatigue/tiredness (n=7/15, 46.7%), decrease in fine and gross motor control (n=7/15, 46.7%). The most frequently bothersome symptoms reported by participants included changes to their speech and talking, muscle spasms, twitches and cramps, breathing difficulties, and fatigue/exhaustion/lack of energy. Participants reported that ALS impacted many aspects of their physical functioning including difficulty walking, difficulty climbing stairs, difficulty eating. Participants experienced increased falls and needed to use mobility aids, due to reduced/loss of mobility. In addition to difficulty walking, most frequently reported bothersome impacts included emotional and mood impacts and loss of independence. A conceptual model, drafted after a review of existing literature/online blogs/forums was updated following patient interviews.

CONCLUSIONS: ALS is a debilitating and rapidly progressing disease with high unmet need and devastating impacts on all aspects of patients’ lives with severe impacts on physical and emotional wellbeing. The conceptual model emerging from this study can be used to support the choice of existing disease-specific instruments in clinical studies.