Researchers have developed qualitative interviews that identified the most frequent and relevant symptoms in patients with late-onset Pompe disease (LOPD). The new conceptual model also evaluated the functional impact of LOPD on patients’ daily living.

Patients described these as the most common and disquieting symptoms: fatigue (92%), site-specific muscle pain (69%), muscle weakness in the lower body (62%), and breathing difficulties (54% of patients mentioned ‘shortness of breath’, especially while lying down).

“Probably the worst one [symptom] would be fatigue. That’s always there…Feeling tired all the time,” one patient said.

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They also reported mobility limitations (eg, difficulty rising from a sitting position and getting up after bending) and difficulties in realizing daily activities (eg, reduced ability to participate in social/family activities or work/study) as the most frequent impacts of LOPD with the highest levels of disturbance on their lives.

“The results from this study can be used to develop future [patient-reported outcome (PRO)] instruments that are tailored to the specific symptoms and impacts experienced by patients with LOPD,” the authors said.

None of the existing PRO instruments currently available for LOPD captures all of the symptom concepts using the patient-preferred language as in this study, according to the authors. In addition, the use of interviews instead of surveys could provide a more accurate and up-to-date measure of patients’ perspectives.

To develop the model, Hamed et al designed a preliminary version informed by a literature review and clinician interviews to identify relevant concepts. Then, they interviewed LOPD patients using the semi-structured interview guide to gather information on patients’ perspectives regarding the key symptoms and impacts of the disease. The interviews were conducted in 3 rounds that enrolled a total of 13 patients (mean age, 56; 54% male).


Hamed A, An Haack K, Gwaltney C, et al. Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective. Orphanet J Rare Dis. 2021;16(1):428. doi:10.1186/s13023-021-02067-x