Infantile onset Pompe disease: a report of physician narratives from an epidemiologic study

To review the narratives that detailed the most important features of Infantile Onset Pompe disease (IOPD) from the physician's perspective, submitted as part of a large multicenter, multinational epidemiologic natural history study.

Inclusion in the epidemiologic study required documentation of onset of symptoms in the first 12 months of age and GAA enzyme deficiency or GAA mutation(s). In all, 300 cases were screened; 168 cases from 33 study sites in 9 countries met all eligibility criteria. In addition, 125 narratives that summarized the most important clinical features of IOPD, reflecting the opinion of the participating physicians who had provided access to the records for the independent review, were analyzed and are reported separately. A total of 98 variables were analyzed.

Hypotonia was the most common presenting symptom, occurring in 75% of patients; muscle weakness was a presenting symptom in 59% of patients. The most frequent sign noted on physical examination was hypotonia (82%); respiratory distress, cardiomegaly, weakness, and cardiac failure were also frequent. Progression of disease was characterized by increased respiratory distress (72%), hypotonia (66%), and cardiac failure (58%). The most frequent supportive treatments were cardiac medications (52%) and oxygen supplementation (35%). Little psychosocial information was included.

Physician narratives provide a unique perspective on the natural history of IOPD and are useful adjuncts to other data collection. Overall, there was concordance with the data obtained by the independent abstractors.