Key Measurement Concepts and Appropriate Clinical Outcome Assessments in Pediatric Achondroplasia Clinical Trials

Author(s): Natalie Aldhouse, MSc (Presenting Author); Helen Kitchen, MSc (Co-Author); Chloe Johnson, MSc (Co-Author); Chris Marshall, MSc (Co-Author); Hannah Pegram, BSc (Co-Author); Sheryl Pease, MBA PMP (Co-Author); Sam Collins, MD (Co-Author); Christine Baker, MPH (Co-Author); Katherine Beaverson, MS (Co-Author); Chandler Crews, BA AS (Co-Author); Kathleen Wyrwich, PhD (Co-Author) Filter by Topic: Clinical genetics and therapeutics

Poster ID: eP252

Objectives: This study aimed to identify fit-for-purpose clinical outcome assessments (COA) to evaluate physical function and well-being in pediatric achondroplasia clinical trials.  

Methods: A literature review was conducted to develop a conceptual model (CM) of key measurement concepts related to achondroplasia, and identify COAs evaluating these CM concepts through patient/caregiver report. Qualitative interviews lasting 90 minutes were conducted in the US with pediatric patients with achondroplasia and/or their caregivers. Interviews utilized concept elicitation methodology to explore patient experiences and caregivers’ hypothetical perspectives of successful treatment outcomes. Cognitive debriefing methodology explored relevance and understanding of selected COAs.

Results: Interviews (N=36) were conducted with caregivers of patients age 0-2 years (n=8) and 3-7 years (n=7) and patient/caregiver dyads with patients age 8-11 years (n=15) and 12-17 years (n=6). Patients/caregivers identified pain, short stature, impacts on physical functioning (e.g. reach), and impacts on well-being (e.g. negative attention/comments) as key bothersome aspects of achondroplasia. Caregivers considered an increase in height (n=9/14, 64%) and an improvement in limb proportion (n=11/14, 71%) as successful treatment outcomes. The Child Health Assessment Questionnaire (CHAQ) and Quality of Life in Short Stature Youth (QoLISSY Brief) were cognitively debriefed. CHAQ items evaluating activities, reaching, and hygiene were most relevant. QOLISSY Brief items evaluating reaching, height bother, being treated differently, and height preventing from doing things others could were most relevant. Instructions, item wording, response scales/options and recall period were well understood by caregivers and patients age 12-17. Some patients age 8-11 had difficulty reading, understanding, or required caregiver input. Patient/caregiver feedback informed minor amendments to CHAQ wording and the addition of a recall period to the QOLISSY Brief.

Conclusion: The CHAQ and QOLISSY Brief are relevant and appropriate measures of physical function and emotional/social well-being in pediatric achondroplasia; patient-report is recommended for age 12-17 years and caregiver-report is recommended for age 0-11 years.

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