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

被引:2
|
作者
McGraw, Sarah A. [1 ]
Henne, Jeff C. [2 ]
Nutter, James [1 ]
Larkin, Adelpha Abrahamson [3 ]
Chen, Er [3 ]
机构
[1] MNW Consulting Grp, 4119 SE Bybee Blvd, Portland, OR 97202 USA
[2] Henne Grp, 425 2nd St,Suite 400, San Francisco, CA 94107 USA
[3] BioMarin Pharmaceut Inc, 770 Lindaro St, San Rafael, CA 94901 USA
关键词
Achondroplasia; Treatment; Medical complications; Short stature; Social needs; Qualitative;
D O I
10.1007/s12325-022-02190-6
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
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.
引用
收藏
页码:3378 / 3391
页数:14
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