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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2014

01-11-2014 | Original Article

Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study

Authors: L. J. Anderson, W. Henley, K. M. Wyatt, V. Nikolaou, S. Waldek, D. A. Hughes, R. H. Lachmann, S. Logan

Published in: Journal of Inherited Metabolic Disease | Issue 6/2014

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Abstract

Objectives

To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe disease.

Design

A longitudinal cohort study including prospective and retrospective clinical outcome data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.

Participants

Consenting adults (N = 62) with a diagnosis of late-onset Pompe disease who attended a specialist treatment centre in England. This cohort represented 83 % of all patients in the UK with a confirmed diagnosis of this rare condition. At study entry, all but three patients were receiving ERT (range of treatment duration, 0 to 3.1 years).

Outcome measures

Percent predicted forced vital capacity (%FVC); ventilation dependency; mobility; 6 min walk test (6MWT); muscle strength and body mass index (BMI).

Results

An association was found between time on ERT and significant increases in the distance walked in the 6MWT (p < 0.001) and muscle strength scores (p < 0.001). Improvements in both these measures were seen over the first 2 years of treatment with ERT. No statistically significant relationship was found between time on ERT and respiratory function or in BMI.

Conclusions

These data provide some further evidence of the effectiveness of ERT in adults with late-onset Pompe disease.

Synopsis

The results of this longitudinal cohort study of 62 adults with late-onset Pompe disease, provide further evidence on the effectiveness of ERT in this rare condition.
Literature
Angelini C, Semplicini C, Ravaglia S et al (2012) Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol 259(5):952–958PubMedCrossRef
Bembi B, Pisa FE, Confalonieri M et al (2010) Long-term observational, non-randomized study of enzyme replacement therapy in late-onset glycogenosis type II. J Inherit Metab Dis 33(6):727–735PubMedCrossRef
Bernstein DL, Bialer MG, Mehta L, Desnick RJ (2010) Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. Mol Genet Metab 101(2–3):130–133PubMedCrossRef
Engel AG, Gomez MR, Seybold ME, Lambert EH (1973) The spectrum and diagnosis of acid maltase deficiency. Neurology 23(1):95–106PubMedCrossRef
Gungor D, de Vries JM, Hop WC et al (2011) Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis 6:34PubMedCrossRefPubMedCentral
Gungor D, Kruijshaar ME, Plug I et al (2013) Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis 8(1):49PubMedCrossRefPubMedCentral
Hagemans ML, Winkel LP, Van Doorn PA et al (2005) Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain 128(Pt 3):671–677PubMedCrossRef
Henley W, Anderson LJ, Wyatt KM, Nikolaou V, Anderson R, Logan S (2014) The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with Lysosomal Storage Disorders. JIMD Rep
Hirschhorn R, Reuser AJJ (2001) Glycogen storage disease type II: acid alpha-glucosidase (Acid Maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3389–3420
Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D (2006a) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671–676PubMedCrossRef
Kishnani PS, Corzo D, Nicolino M et al (2007) Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68(2):99–109PubMedCrossRef
Kishnani PS, Corzo D, Leslie ND et al (2009) Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. Pediatr Res 66(3):329–335PubMedCrossRefPubMedCentral
Papadimas GK, Terzis G, Spengos K et al (2011) Bone mineral density in adult patients with Pompe disease. Bone 48(2):417, author reply 418–419PubMedCrossRef
Regnery C, Kornblum C, Hanisch F et al (2012) 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis 35(5):837–845PubMedCrossRef
Schuller A, Wenninger S, Strigl-Pill N, Schoser B (2012) Toward deconstructing the phenotype of late-onset Pompe disease. Am J Med Genet C: Semin Med Genet 160(1):80–88CrossRef
Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000) Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 137(2):283–285PubMedCrossRef
Strothotte S, Strigl-Pill N, Grunert B et al (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257(1):91–97PubMedCrossRef
Toscano A, Schoser B (2012) Enzyme replacement therapy in late-onset Pompe disease: a systematic literature review. J Neurol 260(4):951–959PubMedCrossRef
van Capelle CI, Winkel LP, Hagemans ML et al (2008) Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 18(6):447–452PubMedCrossRef
van den Berg LE, Zandbergen AA, van Capelle CI et al (2010) Low bone mass in Pompe disease: muscular strength as a predictor of bone mineral density. Bone 47(3):643–649PubMedCrossRef
Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT (2000) Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356(9227):397–398PubMedCrossRef
Van den Hout JM, Reuser AJ, de Klerk JB, Arts WF, Smeitink JA, Van der Ploeg AT (2001) Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk. J Inherit Metab Dis 24(2):266–274PubMedCrossRef
van den Hout HM, Hop W, van Diggelen OP et al (2003) The natural course of infantile Pompe’s disease: 20 original cases compared with 133 cases from the literature. Pediatrics 112(2):332–340PubMedCrossRef
Van der Beek NA, Hagemans ML, Reuser AJ et al (2009) Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscul Disord 19(2):113–117PubMedCrossRef
van der Beek NA, de Vries JM, Hagemans ML et al (2012) Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study. Orphanet J Rare Dis 7:88PubMedCrossRefPubMedCentral
van der Ploeg AT, Clemens PR, Corzo D et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362(15):1396–1406PubMedCrossRef
van der Ploeg AT, Barohn R, Carlson L et al (2012) Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab 107(3):456–461PubMedCrossRef
Wokke JH, Ausems MG, van den Boogaard MJ et al (1995) Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann Neurol 38(3):450–454PubMedCrossRef
Wyatt K, Henley W, Anderson L et al (2012) The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess 16(39):1–543PubMedCrossRef
Metadata
Title
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study
Authors
L. J. Anderson
W. Henley
K. M. Wyatt
V. Nikolaou
S. Waldek
D. A. Hughes
R. H. Lachmann
S. Logan
Publication date
01-11-2014
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2014
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-014-9728-1

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