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Abstract Background Late-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients’ daily lives is limited. The objective of this study was to develop a conceptual model that captures the most relevant symptoms and functional limitations experienced by patients with LOPD, to inform the development of new patient-reported outcome (PRO) tools. Methods A preliminary conceptual model was constructed following a literature review and revised through interviews with expert clinicians to identify important and relevant concepts regarding symptoms and impacts of LOPD. This preliminary model informed the development of a qualitative patient interview guide, which was used to gather the patient perspective on symptoms and impacts relating to LOPD or its treatment (including symptom/impact frequency and levels of disturbance). Patient interviews aided further refinement of the conceptual model. The findings from the patient interviews were triangulated with the literature review and clinician interviews to identify the most relevant and significant effects of LOPD from the patient perspective. Results Muscle weakness, fatigue, pain, and breathing difficulties (especially while lying down) were the most common and highly disturbing symptoms experienced by patients. Limitations associated with mobility (e.g., difficulty rising from a sitting position, getting up after bending) and activities of daily living, (e.g., reduced ability to participate in social/family activities or work/study) were the most frequently reported impacts with the highest levels of disturbance on the patient’s daily life. These identified symptoms and impacts were included in the new conceptual model of disease. Conclusions This qualitative patient interview study, also informed by a literature review and clinician interviews, identified the most frequent and relevant symptoms and the functional impact of LOPD on patients. The study interviews also captured the patient-preferred language to describe symptoms and impacts of LOPD. The results from this study can be used to develop future PRO instruments that are tailored to the specific symptoms and impacts experienced by patients with LOPD.

Abstract  In 2001, Roye et al. developed a disease-specific instrument (DSI) to measure outcomes of treatment for clubfoot. We assessed this instrument using a cohort of 62 patients, ages 5 through 12 years (mean, 8.6 years), with idiopathic clubfoot who were treated as infants by various methods. Treatment groups were defined by whether the patient received joint-invasive surgery (posterior or posteromedial release surgery) or joint-sparing treatment only (manipulation and casting with or without tendo-Achilles lengthening or anterior tibial tendon transfer). The DSI scales demonstrated internal consistency reliability of 0.74 to 0.85 using Cronbach’s alpha. Higher (better) DSI scores were associated with “excellent” general health ratings and better health-related quality of life; lower DSI score were related to special healthcare needs. Patients treated using joint-sparing techniques only (eg, Ponseti technique) had higher DSI scores than those who had received joint-invasive surgery. DSI scores for patients who had received posterior or posterior medial release surgery were very similar to those reported by Roye et al. in New York for a comparable group of patients. Our findings suggest the DSI is sensitive to differences in treatment technique or underlying severity of disease. These data support the use of the Roye DSI as an outcome measure for idiopathic clubfoot in children. Level of Evidence: Level III, diagnostic study. See the Guidelines for Authors for a complete description of levels of evidence. [ABSTRACT FROM AUTHOR]