Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.

PURPOSE: People with achondroplasia (ACH) experience numerous symptoms and impacts on health-related quality of life (HRQoL) and have varying perspectives on treatment. This study characterized the experiences of adolescents and young adults with ACH and caregivers to identify diagnoses, signs and symptoms, and HRQoL impacts associated with ACH and understand treatment perspectives, experiences, and expectations. METHODS: A qualitative interview study was conducted in the US and South Korea from February to June 2023. Participants were people with ACH aged 12–20 years and caregivers (aged ≥ 18 years) of people with ACH aged ≤ 20 years. Interviews explored signs, symptoms, impacts on HRQoL, and treatment perspectives. Interview transcripts were analyzed qualitatively, and key concepts were identified. RESULTS: In total, 30 participants were recruited (15 people with ACH; 15 caregivers). The most prevalent comorbid diagnoses were sleep apnea (n = 23, 77%), teeth misalignment (n = 20, 67%), obesity (n = 18, 60%), and ear infections (n = 17, 57%). The most common symptoms were pain and snoring (n = 25, 83% each). HRQoL impacts primarily involved physical functioning (n = 29, 97%), daily activities (n = 25, 83%), mobility/gait (n = 25, 83%), and social activities (n = 23, 77%). Increased height (n = 20, 67%) and reduced pain (n = 12, 40%) were the most frequently expected treatment benefits. Participants were generally satisfied with treatments but emphasized burdens such as frequent injections. No specific treatment side effects or risks were prominent. CONCLUSION: People with ACH and caregivers prioritized treatments that increased height and reduced pain and wished less burdensome modes of administration were available. Findings may help guide future research and treatment development.