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Pompe disease: design, methodology, and early findings from the Pompe Registry.

Publication ,  Journal Article
Byrne, BJ; Kishnani, PS; Case, LE; Merlini, L; Müller-Felber, W; Prasad, S; van der Ploeg, A
Published in: Mol Genet Metab
May 2011

Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase (GAA). It is characterized by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness and loss of function. It presents as a broad spectrum of clinical phenotypes, with varying rates of progression, symptom onset, degree of organ involvement, and severity. The Pompe Registry represents worldwide data collection on this rare and clinically heterogeneous disease. This report describes the design, methodology, and early findings from the Registry and presents an overview of the Registry population over a five-year period from its inception in September 2004 through September 2009. Among the 742 patients from 28 countries in the Registry, 70% (517/742) reported symptom onset >12 months of age and 23% (170/742) reported symptom onset ≤12 months of age. Seventy-eight percent (582/742) of registry patients have received enzyme replacement therapy. Overall, Registry data appear to be consistent with smaller natural history studies in terms of symptoms and disease course in classical infantile Pompe disease (≤12 months of age with cardiomyopathy) and late-onset Pompe disease (>12 months of age). In addition, a subset of patients with symptom onset ≤12 months of age do not have cardiomyopathy (14.7%); these patients appear to have a later age at first symptoms and diagnosis than their peers with cardiomyopathy. As the largest dataset on Pompe disease to date, the Pompe Registry will serve to improve recognition of the disease, enhance understanding of the variable disease course, and offer insights into treated and untreated disease course.

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Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

May 2011

Volume

103

Issue

1

Start / End Page

1 / 11

Location

United States

Related Subject Headings

  • Registries
  • Mutation
  • Male
  • Lung
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Child, Preschool
 

Citation

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Byrne, B. J., Kishnani, P. S., Case, L. E., Merlini, L., Müller-Felber, W., Prasad, S., & van der Ploeg, A. (2011). Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab, 103(1), 1–11. https://doi.org/10.1016/j.ymgme.2011.02.004
Byrne, Barry J., Priya S. Kishnani, Laura E. Case, Luciano Merlini, Wolfgang Müller-Felber, Suyash Prasad, and Ans van der Ploeg. “Pompe disease: design, methodology, and early findings from the Pompe Registry.Mol Genet Metab 103, no. 1 (May 2011): 1–11. https://doi.org/10.1016/j.ymgme.2011.02.004.
Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1–11.
Byrne, Barry J., et al. “Pompe disease: design, methodology, and early findings from the Pompe Registry.Mol Genet Metab, vol. 103, no. 1, May 2011, pp. 1–11. Pubmed, doi:10.1016/j.ymgme.2011.02.004.
Byrne BJ, Kishnani PS, Case LE, Merlini L, Müller-Felber W, Prasad S, van der Ploeg A. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet Metab. 2011 May;103(1):1–11.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

May 2011

Volume

103

Issue

1

Start / End Page

1 / 11

Location

United States

Related Subject Headings

  • Registries
  • Mutation
  • Male
  • Lung
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Female
  • Child, Preschool