The Pompe Registry: Baseline Data From the First Five Years

The Pompe Registry: Baseline Data From the First Five Years

Clinical Therapeutics/Volume 33, Supplement A, 2011 The Pompe Registry: Baseline Data From the First Five Years Priya Kishnani1; Barry Byrne2; Laura ...

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Clinical Therapeutics/Volume 33, Supplement A, 2011

The Pompe Registry: Baseline Data From the First Five Years Priya Kishnani1; Barry Byrne2; Laura Case1; Luciano Merlini3; Wolfgang Müller-Felber4; Suyash Prasad5; Ans van der Ploeg6; and on behalf of the Pompe Registry Boards of Advisors 1

Duke University Medical Center, Durham, NC, USA; 2University of Florida, Gainesville, FL, USA; Laboratorio Biologia Cellulare Muscoloscheletrica, IOR, Bologna, Italy; 4Friedrich-Baur Institute, München, Germany; 5Genzyme Corporation, Cambridge, MA, USA; and 6Erasmus Medical Center, Sophia Children’s Hospital, Rotterdam, The Netherlands 3

Introduction: The Pompe Registry is the largest repository of worldwide data on Pompe disease and is essential to further understanding of the natural history, clinical symptomatology, and treatment outcomes for this disorder. Description, Results: An overview of the Registry population across a 5-year period from September 2004 to September 2009 is reported. Included are data on age at symptom onset, methods of diagnosis, common mutations, symptoms, and clinical manifestations of infantile-onset versus adult-onset disease. As of September 4, 2009, 742 patients from 28 countries were enrolled in the Registry. Most patients (70%) had symptom onset ⬎12 months of age; 23% had symptom onset ⱕ12 months of age. Of patients with symptom onset ⱕ12 months of age, most (124/170) had cardiomyopathy (defined as infantile Pompe disease in this analysis). A subset of patients with symptom onset ⱕ12 months of age (14.7%) did not have cardiomyopathy (atypical infantile Pompe disease). Median ages at symptom onset and at diagnosis were younger for infants with cardiomyopathy (0.24 and 0.37 years, respectively) than for those without cardiomyopathy (0.50 and 1.3 years, respectively). For patients with symptom onset ⬎12 months of age, median ages at symptom onset and at diagnosis were 28.8 and 37.1 years, respectively. Overall, patients with cardiomyopathy had more significant neuromuscular, respiratory, and gastrointestinal symptoms and developmental delays compared to infantile patients with no cardiac involvement. In patients with symptom onset ⬎12 months of age, musculoskeletal and respiratory symptoms predominated. Discussion, Conclusions: This updated analysis of baseline Pompe Registry data provides new insights and confirms that Registry data are consistent with previous natural history studies in terms of symptoms and disease course in Pompe disease across the age spectrum. A subset of infants with symptom onset ⱕ12 months of age 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.

© 2011 Published by Elsevier HS Journals, Inc.

2011

Clin Ther. 2011;33 (Suppl A):S29 0149-2918/$ - see front matter

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