Treatment Goals for Achondroplasia: A Qualitative Study with Parents and Adults

INTRODUCTION: Achondroplasia is characterized by disproportionate short stature accompanied by other changes to the musculoskeletal system. Individuals with this condition typically experience a variety of medical complications. As pharmacologic treatments continue to be developed for the treatment of achondroplasia, it is important to understand treatment goals among those affected by achondroplasia and the factors that shape their goals. METHODS: This qualitative study is based on semi-structured interviews with 19 parents of children with achondroplasia and five adults with achondroplasia in the USA. We employed thematic analysis using an iterative process to identify themes across the interviews. RESULTS: Participants had two goals for pharmacologic treatment of achondroplasia: ameliorating complications associated with the condition and increasing stature to overcome functional limitations and psychosocial challenges. Complications of particular concern were chronic pain and surgeries to repair spinal, ear, nose, and throat (ENT) problems, and neurological sequelae. Increased height would enhance independence, help individuals to fit in socially, and avoid social stigma. Countervailing factors included the importance of stature to their identity and the concern that the condition would remain despite treatment. CONCLUSIONS: This study offers evidence about how individuals affected by achondroplasia think about the pharmacologic treatment of this condition, including both the benefits of ameliorating complications and increasing height. The findings can offer practical insights for parents of children considering treatment, treating physicians, and decision-makers evaluating coverage decisions for treatment of achondroplasia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s12325-022-02190-6.