(042) What are the main experiences and treatment preferences of people living with achondroplasia and their caregivers?

Background: Achondroplasia (ACH) is a rare genetic disorder. One of the most prevalent skeletal dysplasias affecting humans, ACH accounts for 90% of cases of disproportionate short stature causing dwarfism.

Objectives: The overarching goal of this study was to explore the perspectives of people with ACH and their caregivers related to their experiences with ACH, and to understand perceptions of potential ACH treatment benefits and risks.

Methods: A qualitative study was conducted in the US and South Korea from February to June 2023 with 15 people with ACH and 15 caregivers via one-to-one interviews. Study objectives included identifying relevant symptoms, complications, impacts of ACH, and desirable benefits of potential new treatments. Interviews with patients and caregivers were compared to explore potential differences in perspectives on treatment benefits and risks. Multiple ACH complications were explored including pain, fatigue, sleep apnea, short stature, muscle and bone disorders, and infections.

Results: Patients’ mean age was 14.9 years old, 53% were female, and on average experienced 2.3 complications. Caregivers’ mean age was 43.4 years old, 93% were female, 13% had ACH, and had children with ACH aged 8.1 years. Patients and caregivers most frequently reported pain (25/30, 83%), snoring (25/30, 83%), fatigue (21/30, 70%), and walking/gait (21/30, 70%). When ranking the most bothersome impacts of ACH, patients more frequently reported physical functioning (14/15, 93%) and mobility/gait (13/15, 87%), while caregivers reported social impacts (12/15, 80%) and daily activities (9/15, 60%). Patients struggled with lack of independence due to their height and disproportionate limb length restricting daily activities and self-care. Socially, people with ACH were impacted by their inability to fully participate in activities with peers.
When asked about desired benefits of a new treatment, participants most frequently reported treatment benefits that would increase height (21/30, 70%), and reduce pain (19/30, 63%), sleep apnea (18/30, 60%) and fatigue (15/30, 50%). Participants also expressed desire for treatment options less burdensome and with better tolerability than available treatments options.

Conclusions: Interviews with patients and caregivers identified a broad range of achondroplasia related symptoms, functional limitations and social impacts. Many patients and caregivers highlighted their expectations of ACH treatments that address height and proportional body growth, and other complications such as pain and sleep apnea. These insights will be used to inform the clinical development plan for ACH assets and their associated benefit-risk assessments.