Measuring What Matters to Patients with Pompe Disease: A Review of Clinical Outcome Assessments for Capturing Treatment Benefits of Innovative Novel Therapies.

introductionThis study aimed to identify potential concepts of interest (COIs) and clinical outcome assessments (COAs) for late-onset and infantile-onset Pompe disease (LOPD and IOPD) and to assess whether the current COAs are reliable and valid to capture patients' experiences.

methodsTwo literature reviews were conducted to identify, describe, and document key signs, symptoms, and impacts relevant to patients and to identify COAs used in Pompe disease. The COAs identified were mapped against the potential COIs to determine which instruments provided the best concept coverage from a patient perspective. Shortlisted COAs were further examined to assess their content validity and psychometric properties.

resultsSixteen articles for LOPD and 9 for IOPD were identified for concept extraction. Patients with Pompe disease experience a range of signs, symptoms, and impacts. Most COAs currently used in Pompe disease are generic; only 3 LOPD COAs and 1 IOPD COA were disease-specific. Following mapping, 14 instruments for LOPD and 4 for IOPD were identified as providing the greatest coverage, with notable evidence gaps supporting content validity and/or psychometric properties of all shortlisted COAs.

conclusionSeveral COIs were identified from the literature that may be of importance to patients with Pompe disease. Individual COAs frequently used in assessing these concepts were found to have gaps with regards to content validity and psychometric properties. Additional research with patients with Pompe disease could be considered to address issues of content validity. Furthermore, the use of several COAs could be considered in future studies to capture what matters most to patients with Pompe disease.