Introduction: The Pompe Registry is the largest repository of worldwide data on Pompe disease and is essential to further understanding the natural history and treatment outcomes for this disorder.

Description/Results: An overview of the Registry population across a 5-year period is reported. As of September 4, 2009, 742 patients from 28 countries were enrolled. Most patients (70%) had symptom onset > 12 months of age; 23% had symptom onset ≤ 12 months of age. Of patients with symptom onset ≤ 12 months, most (124/170) had cardiomyopathy (defined here as infantile Pompe disease). A subset of patients with symptom onset ≤ 12 months (14.7%) did not have cardiomyopathy (atypical infantile Pompe disease). Median ages at symptom onset and diagnosis were younger for infants with cardiomyopathy (0.24 and 0.37 years, respectively) than without cardiomyopathy (0.50 and 1.3 years, respectively). For patients with symptom onset > 12 months, median ages at symptom onset and diagnosis were 28.8 and 37.1 years, respectively. Overall, patients with cardiomyopathy had more significant neuromuscular, respiratory, and gastrointestinal symptoms, and developmental delays than those without. In patients with symptom onset > 12 months of age, musculoskeletal and respiratory symptoms predominated.

Discussion/Conclusions: This analysis provides new insights and confirms that Registry data are consistent with previous studies of symptoms and disease course in Pompe disease. A subset of infants with symptom onset ≤ 12 months without cardiomyopathy had a later age at first symptoms and diagnosis than those with cardiomyopathy. Additional analyses of the Registry are underway and will improve recognition and understanding of Pompe disease.

demographics, methodology, natural history, registry
dx.doi.org/10.1016/j.clinthera.2011.05.069, hdl.handle.net/1765/132157
Clinical Therapeutics: the international peer-reviewed journal of drug therapy
Erasmus MC: University Medical Center Rotterdam

Kishnani, P. (Priya), Byrne, B, Case, L, Merlini, L, Müller-Felber, W, Prasad, S. (Suyash), & van der Ploeg, A.T. (2011). The Pompe Registry: Baseline Data From the First Five Years. Clinical Therapeutics: the international peer-reviewed journal of drug therapy, 33(6). doi:10.1016/j.clinthera.2011.05.069