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Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry
Clinical Therapeutics/Volume 33, Supplement A, 2011
Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry Mark E. Roberts1; Simon Jones2; Andrew Millar3; and Suyash Prasad4; for the Pompe Registry Boards of Advisors 1
Withington Hospital, Manchester, UK; 2Willink Unit, Genetic Medicine, Manchester Academic Health Science Center, Central Manchester University Hospitals NHS Foundation Trust, St. Mary’s Hospital, Manchester, UK; 3 Genzyme Therapeutics, Oxford, UK; 4Genzyme Corporation, Cambridge, MA, USA Introduction: The Pompe Registry is a global observational database collecting anonymous, longitudinal data on patients with Pompe disease. For the purpose of this analysis, patients are categorized into those with symptom onset by 12 months of age (infantile-onset), and those with symptom onset later than 12 months of age (late-onset). Guidelines have been developed in the UK for the diagnosis and treatment of patients with Pompe disease.1,2 Ongoing management of UK patients with lysosomal storage disorders (LSDs) occurs at one of 7 designated treatment centers. The goal of this analysis is to understand any regional differences in patient populations, care, and outcomes between the UK and rest-of-world (ROW). Description: Data, including demographics, symptom profile, diagnosis, and treatment status, are summarized for baseline and regular follow-up intervals for classical infantile-onset, late-onset, onset type missing, and all patients. Results: As of July 2010, 860 children and adults were enrolled in the Registry from 29 countries. Of these, the UK enrolled 94 patients: 18 (19.1%) infantile-onset, 72 (76.6%) late-onset, and 4 (4.3%) patients with onset type missing. This compares with 180 (23.5%) infantile-onset, 526 (68.7%) late-onset, and 60 (7.8%) onset type missing patients (total: 766 patients) in ROW. Median age at diagnosis for UK patients was 3.2 months (infantileonset) and 39.6 years (late-onset), compared with a median of 5.0 months and 37.3 years, respectively, in ROW. Patients in the UK were diagnosed predominantly by enzyme assay (90.1%), 4.9% of whom were diagnosed using dried blood spot (DBS) technology. In ROW, the proportion of diagnoses by enzyme assay is slightly lower (81.9%), with a higher proportion (13.2%) of patients diagnosed by DBS. The proportion of all UK patients with scoliosis reported at enrollment is much smaller than in ROW patients: 9.6% versus 23.9%, respectively. Other respiratory and musculoskeletal symptoms are comparable between UK and ROW. Conclusions: Differences exist in median ages at diagnosis between UK and ROW Pompe Registry patients, with UK infants being diagnosed almost 2 months earlier, and late-onset UK patients being diagnosed almost 2 years later. Diagnostic methods are comparable globally, although a smaller percentage of patients in the UK has been diagnosed using DBS. Comparable proportions of patients have respiratory and musculoskeletal symptoms at enrollment. Given the early stage of the Pompe Registry, when looking at country-specific analyses, some sample sizes are small and results must be interpreted with caution. REFERENCES 1. Wraith JE, et al. Guidelines for the investigation and management of infantile onset Pompe disease. Accessed at: http:// www.specialisedservices.nhs.uk/library/23/Guidelines_for_Infantile_Pompe_Disease.pdf; July 29, 2010. 2. Deegan PB, et al. Guidelines for the investigation and management of late onset acid maltase deficiency (Type II glycogen storage disease / Pompe disease). Accessed at: http://www.specialisedservices.nhs.uk/library/23/Guidelines_for_Late_Onset_Pompe_ Disease.pdf; July 29, 2010.
© 2011 Published by Elsevier HS Journals, Inc.
2011
Clin Ther. 2011;33 (Suppl A):S19 0149-2918/$ - see front matter
S19
Pompe Disease in the United Kingdom Compared with the Rest-of-World: Data from the Pompe Registry Mark E. Roberts1; Simon Jones2; Andrew Millar3; and Suyash Prasad4; for the Pompe Registry Boards of Advisors 1
Withington Hospital, Manchester, UK; 2Willink Unit, Genetic Medicine, Manchester Academic Health Science Center, Central Manchester University Hospitals NHS Foundation Trust, St. Mary’s Hospital, Manchester, UK; 3 Genzyme Therapeutics, Oxford, UK; 4Genzyme Corporation, Cambridge, MA, USA Introduction: The Pompe Registry is a global observational database collecting anonymous, longitudinal data on patients with Pompe disease. For the purpose of this analysis, patients are categorized into those with symptom onset by 12 months of age (infantile-onset), and those with symptom onset later than 12 months of age (late-onset). Guidelines have been developed in the UK for the diagnosis and treatment of patients with Pompe disease.1,2 Ongoing management of UK patients with lysosomal storage disorders (LSDs) occurs at one of 7 designated treatment centers. The goal of this analysis is to understand any regional differences in patient populations, care, and outcomes between the UK and rest-of-world (ROW). Description: Data, including demographics, symptom profile, diagnosis, and treatment status, are summarized for baseline and regular follow-up intervals for classical infantile-onset, late-onset, onset type missing, and all patients. Results: As of July 2010, 860 children and adults were enrolled in the Registry from 29 countries. Of these, the UK enrolled 94 patients: 18 (19.1%) infantile-onset, 72 (76.6%) late-onset, and 4 (4.3%) patients with onset type missing. This compares with 180 (23.5%) infantile-onset, 526 (68.7%) late-onset, and 60 (7.8%) onset type missing patients (total: 766 patients) in ROW. Median age at diagnosis for UK patients was 3.2 months (infantileonset) and 39.6 years (late-onset), compared with a median of 5.0 months and 37.3 years, respectively, in ROW. Patients in the UK were diagnosed predominantly by enzyme assay (90.1%), 4.9% of whom were diagnosed using dried blood spot (DBS) technology. In ROW, the proportion of diagnoses by enzyme assay is slightly lower (81.9%), with a higher proportion (13.2%) of patients diagnosed by DBS. The proportion of all UK patients with scoliosis reported at enrollment is much smaller than in ROW patients: 9.6% versus 23.9%, respectively. Other respiratory and musculoskeletal symptoms are comparable between UK and ROW. Conclusions: Differences exist in median ages at diagnosis between UK and ROW Pompe Registry patients, with UK infants being diagnosed almost 2 months earlier, and late-onset UK patients being diagnosed almost 2 years later. Diagnostic methods are comparable globally, although a smaller percentage of patients in the UK has been diagnosed using DBS. Comparable proportions of patients have respiratory and musculoskeletal symptoms at enrollment. Given the early stage of the Pompe Registry, when looking at country-specific analyses, some sample sizes are small and results must be interpreted with caution. REFERENCES 1. Wraith JE, et al. Guidelines for the investigation and management of infantile onset Pompe disease. Accessed at: http:// www.specialisedservices.nhs.uk/library/23/Guidelines_for_Infantile_Pompe_Disease.pdf; July 29, 2010. 2. Deegan PB, et al. Guidelines for the investigation and management of late onset acid maltase deficiency (Type II glycogen storage disease / Pompe disease). Accessed at: http://www.specialisedservices.nhs.uk/library/23/Guidelines_for_Late_Onset_Pompe_ Disease.pdf; July 29, 2010.
© 2011 Published by Elsevier HS Journals, Inc.
2011
Clin Ther. 2011;33 (Suppl A):S19 0149-2918/$ - see front matter
S19